Variant report

Variant	nsv482557
Chromosome Location	chr22:23584948-23741799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3920)
CpG islands
(count:918)
Chromatin interactive
region (count:119)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3920 , 50 per page) page: 1 2 3 4 5 6 7 ... 79

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23657979-23658172	K562	blood:	n/a	n/a
2	ARID3A	chr22:23589287-23589676	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23681840-23682088	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:23593841-23594423	K562	blood:	n/a	n/a
5	ARID3A	chr22:23623998-23624403	K562	blood:	n/a	n/a
6	ARID3A	chr22:23590682-23590947	K562	blood:	n/a	n/a
7	ATF1	chr22:23593701-23594487	K562	blood:	n/a	n/a
8	ATF1	chr22:23584147-23585614	K562	blood:	n/a	n/a
9	ATF2	chr22:23584576-23585594	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr22:23584602-23585292	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr22:23623698-23624235	GM12878	blood:	n/a	n/a
12	ATF3	chr22:23585263-23585590	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr22:23604059-23604595	K562	blood:	n/a	n/a
14	ATF3	chr22:23631376-23632787	K562	blood:	n/a	chr22:23631379-23631392
15	ATF3	chr22:23623210-23625093	K562	blood:	n/a	n/a
16	ATF3	chr22:23621765-23622507	K562	blood:	n/a	n/a
17	ATF3	chr22:23718462-23718758	GM12878	blood:	n/a	n/a
18	ATF3	chr22:23585282-23585815	K562	blood:	n/a	n/a
19	ATF3	chr22:23718506-23718740	K562	blood:	n/a	n/a
20	ATF3	chr22:23606414-23607117	K562	blood:	n/a	n/a
21	ATF3	chr22:23602885-23603397	K562	blood:	n/a	n/a
22	ATF3	chr22:23593361-23594591	K562	blood:	n/a	chr22:23593950-23593964 chr22:23593948-23593961 chr22:23593948-23593959 chr22:23593951-23593958 chr22:23593951-23593959 chr22:23593948-23593961 chr22:23593950-23593958 chr22:23593947-23593962 chr22:23593949-23593960 chr22:23593951-23593962 chr22:23593950-23593961
23	ATF3	chr22:23602172-23602876	K562	blood:	n/a	chr22:23602503-23602516
24	ATF3	chr22:23718535-23718743	GM12878	blood:	n/a	n/a
25	ATF3	chr22:23585350-23585501	GM12878	blood:	n/a	n/a
26	ATF3	chr22:23718553-23718782	H1-hESC	embryonic stem cell:	n/a	n/a
27	ATF3	chr22:23611908-23612943	K562	blood:	n/a	chr22:23612085-23612105
28	ATF3	chr22:23591609-23594592	K562	blood:	n/a	chr22:23593950-23593964 chr22:23593948-23593961 chr22:23593948-23593959 chr22:23593951-23593958 chr22:23593951-23593959 chr22:23593948-23593961 chr22:23593950-23593958 chr22:23593947-23593962 chr22:23593949-23593960 chr22:23593951-23593962 chr22:23593950-23593961
29	ATF3	chr22:23612001-23612174	GM12878	blood:	n/a	chr22:23612085-23612105
30	ATF3	chr22:23718470-23718848	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr22:23611860-23612219	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr22:23592017-23594469	K562	blood:	n/a	chr22:23593931-23593945
33	BACH1	chr22:23606117-23606283	K562	blood:	n/a	n/a
34	BACH1	chr22:23623783-23624612	K562	blood:	n/a	chr22:23624533-23624547
35	BACH1	chr22:23590600-23591164	K562	blood:	n/a	n/a
36	BACH1	chr22:23584509-23585713	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr22:23612436-23612941	H1-hESC	embryonic stem cell:	n/a	n/a
38	BACH1	chr22:23612342-23613072	K562	blood:	n/a	n/a
39	BACH1	chr22:23602634-23602826	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr22:23623867-23624235	H1-hESC	embryonic stem cell:	n/a	n/a
41	BATF	chr22:23611100-23611531	GM12878	blood:	n/a	n/a
42	BATF	chr22:23668521-23668817	GM12878	blood:	n/a	n/a
43	BATF	chr22:23652901-23653216	GM12878	blood:	n/a	chr22:23653078-23653089
44	BATF	chr22:23611182-23611451	GM12878	blood:	n/a	n/a
45	BATF	chr22:23688010-23688399	GM12878	blood:	n/a	n/a
46	BATF	chr22:23657970-23658426	GM12878	blood:	n/a	n/a
47	BATF	chr22:23662301-23662502	GM12878	blood:	n/a	n/a
48	BATF	chr22:23672464-23672742	GM12878	blood:	n/a	n/a
49	BATF	chr22:23667425-23667682	GM12878	blood:	n/a	n/a
50	BATF	chr22:23585174-23585511	GM12878	blood:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23603351-23603401	NB4	blood:	n/a
2	chr22:23603351-23603401	HEEpiC	esophagus:	n/a
3	chr22:23730507-23730557	AG10803	skin:	n/a
4	chr22:23603351-23603401	NB4	blood:	n/a
5	chr22:23603351-23603401	HEEpiC	esophagus:	n/a
6	chr22:23730507-23730557	AG10803	skin:	n/a
7	chr22:23602765-23602815	CMK	blood:	n/a
8	chr22:23733812-23733862	AG09319	gingival:	n/a
9	chr22:23730507-23730557	SK-N-SH	brain:	n/a
10	chr22:23606384-23606434	MCF10A-Er-Src	breast:	n/a
11	chr22:23729011-23729061	HRE	kidney:	n/a
12	chr22:23606384-23606434	BJ	skin:	n/a
13	chr22:23658966-23659016	HepG2	liver:	n/a
14	chr22:23603351-23603401	GM19239	blood:	n/a
15	chr22:23732191-23732241	PFSK-1	brain:	n/a
16	chr22:23607606-23607656	ECC-1	luminal epithelium:	n/a
17	chr22:23728539-23728589	Hepatocyte	liver:	n/a
18	chr22:23607606-23607656	GM06990	blood:	n/a
19	chr22:23658966-23659016	ECC-1	luminal epithelium:	n/a
20	chr22:23606384-23606434	AoSMC	blood vessel:	n/a
21	chr22:23602765-23602815	HNPCEpiC	eye:	n/a
22	chr22:23603351-23603401	PrEC	prostate:	n/a
23	chr22:23730283-23730333	CMK	blood:	n/a
24	chr22:23730283-23730333	NH-A	brain:	n/a
25	chr22:23605330-23605380	HAEpiC	amniotic membrane:	n/a
26	chr22:23602765-23602815	PANC-1	pancreas:	n/a
27	chr22:23732191-23732241	HCF	heart:	n/a
28	chr22:23729011-23729061	H1-hESC	embryonic stem cell:	embryo
29	chr22:23730283-23730333	AG04450	lung:	fetal
30	chr22:23730283-23730333	NT2-D1	testis:	n/a
31	chr22:23607606-23607656	U87	brain:	n/a
32	chr22:23658966-23659016	AoSMC	blood vessel:	n/a
33	chr22:23605411-23605461	HCPEpiC	choroid plexus:	n/a
34	chr22:23607606-23607656	HEK293	kidney:	embryo
35	chr22:23605330-23605380	Jurkat	blood:	n/a
36	chr22:23727927-23727977	SK-N-SH	brain:	n/a
37	chr22:23730507-23730557	BE2_C	brain:	n/a
38	chr22:23727927-23727977	LNCaP	prostate:	n/a
39	chr22:23727927-23727977	SKMC	muscle:	n/a
40	chr22:23729011-23729061	HPAEpiC	pulmonary alveolar:	n/a
41	chr22:23728539-23728589	GM12891	blood:	n/a
42	chr22:23658966-23659016	Hepatocyte	liver:	n/a
43	chr22:23602765-23602815	Hepatocyte	liver:	n/a
44	chr22:23603351-23603401	MCF10A-Er-Src	breast:	n/a
45	chr22:23607606-23607656	SAEC	small airway:	n/a
46	chr22:23733812-23733862	PANC-1	pancreas:	n/a
47	chr22:23605330-23605380	HUVEC	blood vessel:	n/a
48	chr22:23603351-23603401	HMEC	breast:	n/a
49	chr22:23605565-23605615	NT2-D1	testis:	n/a
50	chr22:23605565-23605615	ovcar-3	ovarian:	n/a

(count:119 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:23607206..23609020-chr9:133613285..133615620,2	K562	blood:
2	chr22:23516262..23516815-chr22:23622923..23623913,2	MCF-7	breast:
3	chr22:23522061..23524722-chr22:23589297..23592350,3	MCF-7	breast:
4	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
5	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:
6	chr22:23516127..23516832-chr22:23624133..23624667,2	MCF-7	breast:
7	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:
8	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:
9	chr22:23515719..23516706-chr22:23629849..23630737,2	K562	blood:
10	chr22:23631623..23633644-chr22:23635292..23638190,2	MCF-7	breast:
11	chr22:23629945..23630802-chr9:133606657..133607628,2	K562	blood:
12	chr22:23519543..23521281-chr22:23587399..23590262,2	MCF-7	breast:
13	chr22:23632204..23633014-chr9:133608816..133609543,2	K562	blood:
14	chr22:23520354..23522598-chr22:23621308..23622876,11	K562	blood:
15	chr22:23571843..23573484-chr22:23598551..23600806,2	MCF-7	breast:
16	chr22:23605943..23609700-chr22:23610054..23612311,4	MCF-7	breast:
17	chr22:23521575..23523250-chr22:23605169..23607302,2	MCF-7	breast:
18	chr22:23522684..23525634-chr22:23628553..23630815,2	MCF-7	breast:
19	chr22:23498297..23499582-chr22:23623699..23624663,6	K562	blood:
20	chr22:23520214..23522357-chr22:23610812..23613566,3	MCF-7	breast:
21	chr22:23713708..23715595-chr22:23719282..23721886,2	K562	blood:
22	chr22:23301210..23302026-chr22:23727802..23728448,2	MCF-7	breast:
23	chr22:23656155..23656793-chr22:23727780..23728604,2	MCF-7	breast:
24	chr22:23583033..23586852-chr22:23588137..23592281,4	MCF-7	breast:
25	chr22:23631623..23633644-chr22:23635292..23638190,2	MCF-7	breast:
26	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
27	chr22:23629416..23631083-chr9:133736866..133739737,2	K562	blood:
28	chr22:23520782..23521294-chr22:23611645..23612373,2	MCF-7	breast:
29	chr22:23619739..23621336-chr9:133627778..133629394,2	K562	blood:
30	chr22:23519910..23521360-chr22:23623104..23624706,17	MCF-7	breast:
31	chr22:23301037..23302377-chr22:23623248..23624813,25	K562	blood:
32	chr22:23534219..23534727-chr22:23611586..23612126,2	MCF-7	breast:
33	chr22:23627103..23630736-chr9:133614856..133619063,5	K562	blood:
34	chr22:23520315..23521264-chr22:23627226..23627950,2	K562	blood:
35	chr22:23515760..23516798-chr22:23622035..23623640,7	K562	blood:
36	chr22:23516237..23516764-chr22:23611954..23612933,2	K562	blood:
37	chr22:23525964..23528209-chr22:23616642..23619198,2	MCF-7	breast:
38	chr22:23470450..23471035-chr22:23623962..23624646,2	MCF-7	breast:
39	chr22:23590317..23592486-chr22:23595692..23597693,3	MCF-7	breast:
40	chr22:23728174..23728812-chr22:23881510..23882034,2	K562	blood:
41	chr22:23520899..23523214-chr22:23632286..23633835,2	MCF-7	breast:
42	chr22:23633044..23635681-chr22:23636555..23639333,2	K562	blood:
43	chr22:23618828..23621252-chr9:133610362..133612451,2	K562	blood:
44	chr22:23521450..23522095-chr22:23624049..23624602,2	MCF-7	breast:
45	chr22:23582900..23583761-chr22:23611417..23612169,2	MCF-7	breast:
46	chr22:23630763..23634544-chr22:23636412..23640567,4	K562	blood:
47	chr22:23519278..23524652-chr22:23627855..23631618,5	MCF-7	breast:
48	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
49	chr22:23520305..23521477-chr22:23623626..23624696,9	MCF-7	breast:
50	chr22:23696355..23697873-chr22:23707561..23710037,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB36-3	chr22:23606078-23606187	NONHSAT083871
2	lnc-IGLL1-4	chr22:23740265-23740293	NONHSAT083882
3	lnc-RAB36-2	chr22:23595987-23596020	NONHSAT083863
4	lnc-BCR-3	chr22:23723132-23723248	NONHSAT083879
5	lnc-RAB36-3	chr22:23605880-23605982	NONHSAT083871
6	lnc-BCR-1	chr22:23670511-23670680	XLOC_014170
7	lnc-IGLL1-4	chr22:23736113-23736244	NONHSAT083882
8	lnc-BCR-1	chr22:23668803-23668978	XLOC_014170
9	lnc-IGLL1-4	chr22:23741771-23741795	NONHSAT083882
10	lnc-IGLL1-4	chr22:23734772-23735020	NONHSAT083882
11	lnc-RAB36-6	chr22:23658994-23659291	NONHSAT083875
12	lnc-IGLL1-4	chr22:23734914-23735064	NONHSAT083880
13	lnc-RAB36-4	chr22:23644528-23645050	NONHSAT083873
14	lnc-RAB36-2	chr22:23595986-23596020	NONHSAT083862
15	lnc-IGLL1-4	chr22:23732833-23733911	NONHSAT083880
16	lnc-RTDR1-3	chr22:23603971-23604258	NONHSAT083870
17	lnc-RAB36-4	chr22:23637228-23637342	NONHSAT083873
18	lnc-RTDR1-5	chr22:23660661-23660864	NONHSAT083876
19	lnc-RTDR1-5	chr22:23659119-23660289	NONHSAT083876
20	lnc-BCR-3	chr22:23723434-23723530	NONHSAT083879

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BCR	hsa-miR-10a-5p	chr22:23658202-23658226
2	BCR	hsa-miR-10a-5p	chr22:23658219-23658225

Variant related genes	Relation type
CES5AP1	TF binding region
ENSG00000214526	TF binding region
FBXW4P1	TF binding region
ENSG00000236611	TF binding region
BCR	TF binding region
RN7SL263P	TF binding region
ZDHHC8P1	TF binding region
ENSG00000248409	TF binding region
CES5AP1	CpG island
ENSG00000214526	CpG island
FBXW4P1	CpG island
ENSG00000236611	CpG island
BCR	CpG island
RN7SL263P	CpG island
ZDHHC8P1	CpG island
ENSG00000248409	CpG island
ENSG00000232350	chromatin interactions
ENSG00000133519	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000214526	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000248409	chromatin interactions

Extended variants
information (count: 6383 )
Associated
traits (count: 216 )

Variant overlapped rSNPs/rCNVs (count:6383 , 50 per page) page: 1 2 3 4 5 6 7 ... 128

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546904977	chr22:23584961-23584962	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs200405954	chr22:23585009-23585010	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566809246	chr22:23585033-23585034	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538676278	chr22:23585037-23585038	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs189809854	chr22:23585038-23585039	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548056691	chr22:23585054-23585055	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs150238191	chr22:23585070-23585071	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs538348241	chr22:23585105-23585106	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554722394	chr22:23585109-23585110	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs531905158	chr22:23585110-23585111	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145874747	chr22:23585120-23585121	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs181070280	chr22:23585128-23585129	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs1004040	chr22:23585132-23585133	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs545860218	chr22:23585135-23585136	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562493634	chr22:23585163-23585164	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs556849060	chr22:23585202-23585203	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs575905889	chr22:23585208-23585209	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184492649	chr22:23585222-23585223	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561600213	chr22:23585251-23585252	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs530265151	chr22:23585271-23585272	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs76311488	chr22:23585274-23585275	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs28375	chr22:23585311-23585312	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs532658426	chr22:23585320-23585321	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs552556004	chr22:23585322-23585323	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148996970	chr22:23585356-23585357	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs187994490	chr22:23585405-23585406	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548681981	chr22:23585426-23585427	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568443157	chr22:23585502-23585503	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs534003145	chr22:23585518-23585519	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs554003818	chr22:23585520-23585521	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs1003273	chr22:23585522-23585523	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs550988608	chr22:23585545-23585546	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577249059	chr22:23585560-23585561	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs576406143	chr22:23585570-23585571	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs6003583	chr22:23585578-23585579	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556137429	chr22:23585597-23585598	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576009085	chr22:23585633-23585634	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541444554	chr22:23585655-23585656	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs555466915	chr22:23585674-23585675	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145639599	chr22:23585720-23585721	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs540466888	chr22:23585725-23585726	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs560324378	chr22:23585748-23585749	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs532523912	chr22:23585786-23585787	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116754790	chr22:23585811-23585812	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs34022408	chr22:23585836-23585837	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs398036611	chr22:23585853-23585854	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs138263187	chr22:23585867-23585868	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs531762968	chr22:23585883-23585884	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs376431002	chr22:23585888-23585889	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs539723764	chr22:23585904-23585905	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:216)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic myeloid leukemia	18641042	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:3480 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23569000-23586200	Weak transcription	A549	lung
2	chr22:23570000-23589800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:23571000-23585400	Weak transcription	Hela-S3	cervix
4	chr22:23573800-23593400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr22:23574000-23585000	Enhancers	Primary T cells fromperipheralblood	blood
6	chr22:23576800-23586600	Weak transcription	HepG2	liver
7	chr22:23578800-23586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:23579200-23588800	Weak transcription	Stomach Mucosa	stomach
9	chr22:23580200-23586400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr22:23580200-23587200	Weak transcription	Aorta	Aorta
11	chr22:23580200-23589000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr22:23580400-23587000	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:23580400-23587000	Weak transcription	NHLF	lung
14	chr22:23580400-23587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:23580400-23587200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr22:23580400-23589000	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:23580600-23586600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr22:23581600-23585000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:23582000-23589600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:23582200-23586000	Enhancers	Primary hematopoietic stem cells	blood
21	chr22:23582200-23586800	Enhancers	Primary B cells from peripheral blood	blood
22	chr22:23582200-23587600	Enhancers	HUVEC	blood vessel
23	chr22:23582800-23585000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr22:23582800-23585600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr22:23582800-23587800	Enhancers	Brain Hippocampus Middle	brain
26	chr22:23582800-23588400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr22:23583000-23585000	Enhancers	Fetal Thymus	thymus
28	chr22:23583000-23585000	Enhancers	GM12878-XiMat	blood
29	chr22:23583000-23585200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr22:23583000-23585600	Genic enhancers	Right Atrium	heart
31	chr22:23583000-23585800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr22:23583000-23585800	Enhancers	Placenta	Placenta
33	chr22:23583000-23585800	Enhancers	Spleen	Spleen
34	chr22:23583000-23586000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr22:23583000-23586200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr22:23583000-23586400	Genic enhancers	K562	blood
37	chr22:23583000-23587200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr22:23583000-23587600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:23583000-23587800	Enhancers	Brain Germinal Matrix	brain
40	chr22:23583000-23588600	Enhancers	Thymus	Thymus
41	chr22:23583200-23585000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr22:23583200-23585200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:23583200-23585200	Enhancers	Primary B cells from cord blood	blood
44	chr22:23583200-23585200	Enhancers	Pancreas	Pancrea
45	chr22:23583200-23585600	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:23583200-23585800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:23583200-23585800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr22:23583200-23585800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr22:23583200-23585800	Enhancers	Lung	lung
50	chr22:23583200-23587400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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