Variant report

Variant	esv1831853
Chromosome Location	chr3:20157077-20615273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2841)
CpG islands
(count:1771)
Chromatin interactive
region (count:191)
LncRNA
region (count:23)
Mature miRNA
region (count: 1)
miRNA target
sites (count:14)

(count:2841 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:20364750-20365312	K562	blood:	n/a	n/a
2	ARID3A	chr3:20227329-20228186	K562	blood:	n/a	n/a
3	ARID3A	chr3:20267278-20267600	K562	blood:	n/a	n/a
4	ARID3A	chr3:20227487-20228388	HepG2	liver:	n/a	n/a
5	ARID3A	chr3:20361861-20362463	HepG2	liver:	n/a	n/a
6	ARID3A	chr3:20382933-20383181	HepG2	liver:	n/a	n/a
7	ARID3A	chr3:20378141-20378394	K562	blood:	n/a	n/a
8	ARID3A	chr3:20362800-20363279	K562	blood:	n/a	n/a
9	ARID3A	chr3:20368591-20368761	K562	blood:	n/a	n/a
10	ARID3A	chr3:20553373-20553610	HepG2	liver:	n/a	n/a
11	ARID3A	chr3:20366598-20367214	K562	blood:	n/a	n/a
12	ARID3A	chr3:20394102-20394581	K562	blood:	n/a	n/a
13	ARID3A	chr3:20363620-20364094	K562	blood:	n/a	chr3:20363734-20363750
14	ARID3A	chr3:20381827-20382195	K562	blood:	n/a	n/a
15	ARID3A	chr3:20371522-20371864	K562	blood:	n/a	n/a
16	ATF1	chr3:20366606-20366910	K562	blood:	n/a	n/a
17	ATF1	chr3:20364790-20365451	K562	blood:	n/a	n/a
18	ATF1	chr3:20226994-20228147	K562	blood:	n/a	n/a
19	ATF1	chr3:20521702-20521870	K562	blood:	n/a	n/a
20	ATF1	chr3:20346503-20346616	K562	blood:	n/a	n/a
21	ATF2	chr3:20288074-20288600	GM12878	blood:	n/a	n/a
22	ATF2	chr3:20227637-20228238	GM12878	blood:	n/a	n/a
23	ATF2	chr3:20167304-20167868	GM12878	blood:	n/a	n/a
24	ATF2	chr3:20167264-20167940	GM12878	blood:	n/a	n/a
25	ATF2	chr3:20385829-20386232	H1-hESC	embryonic stem cell:	n/a	n/a
26	ATF2	chr3:20227207-20228211	GM12878	blood:	n/a	n/a
27	ATF2	chr3:20288131-20288515	GM12878	blood:	n/a	n/a
28	ATF3	chr3:20227425-20228037	HepG2	liver:	n/a	n/a
29	ATF3	chr3:20227535-20227966	K562	blood:	n/a	n/a
30	ATF3	chr3:20227575-20227873	GM12878	blood:	n/a	n/a
31	ATF3	chr3:20394287-20394634	K562	blood:	n/a	n/a
32	ATF3	chr3:20227605-20227903	HepG2	liver:	n/a	n/a
33	ATF3	chr3:20227448-20228043	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF3	chr3:20227505-20227918	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF3	chr3:20227585-20227975	K562	blood:	n/a	n/a
36	ATF3	chr3:20227527-20228058	GM12878	blood:	n/a	n/a
37	BACH1	chr3:20394371-20394578	K562	blood:	n/a	n/a
38	BACH1	chr3:20492139-20492474	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr3:20536253-20536368	H1-hESC	embryonic stem cell:	n/a	n/a
40	BACH1	chr3:20366536-20366578	K562	blood:	n/a	n/a
41	BACH1	chr3:20578833-20579051	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr3:20394395-20394609	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr3:20197358-20197428	K562	blood:	n/a	n/a
44	BACH1	chr3:20363669-20363903	K562	blood:	n/a	n/a
45	BACH1	chr3:20381913-20382270	K562	blood:	n/a	n/a
46	BACH1	chr3:20492146-20492486	K562	blood:	n/a	n/a
47	BACH1	chr3:20535546-20535645	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr3:20277377-20277645	GM12878	blood:	n/a	n/a
49	BATF	chr3:20167475-20167827	GM12878	blood:	n/a	chr3:20167811-20167819
50	BATF	chr3:20288183-20288438	GM12878	blood:	n/a	chr3:20288290-20288301

(count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:20228976-20229026	NHBE	bronchial:	n/a
2	chr3:20418856-20418906	HRCEpiC	kidney:	n/a
3	chr3:20228976-20229026	NHBE	bronchial:	n/a
4	chr3:20418856-20418906	HRCEpiC	kidney:	n/a
5	chr3:20227789-20227839	K562	blood:	n/a
6	chr3:20223923-20223973	HUVEC	blood vessel:	n/a
7	chr3:20227091-20227141	NH-A	brain:	n/a
8	chr3:20227663-20227713	HIPEpiC	eye:	n/a
9	chr3:20227801-20227851	Jurkat	blood:	n/a
10	chr3:20227091-20227141	HL-60	blood:	n/a
11	chr3:20575513-20575563	NH-A	brain:	n/a
12	chr3:20227516-20227566	GM12891	blood:	n/a
13	chr3:20195067-20195117	AG09319	gingival:	n/a
14	chr3:20227925-20227975	HPAEpiC	pulmonary alveolar:	n/a
15	chr3:20589760-20589810	IMR90	lung:	fetal
16	chr3:20226964-20227014	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:20227059-20227109	AG04450	lung:	fetal
18	chr3:20231061-20231111	RPTEC	kidney:	n/a
19	chr3:20227516-20227566	K562	blood:	n/a
20	chr3:20227809-20227859	Jurkat	blood:	n/a
21	chr3:20589671-20589721	NHBE	bronchial:	n/a
22	chr3:20321584-20321634	ovcar-3	ovarian:	n/a
23	chr3:20227809-20227859	AG10803	skin:	n/a
24	chr3:20412342-20412392	SAEC	small airway:	n/a
25	chr3:20448283-20448333	NHDF-neo	bronchial:	n/a
26	chr3:20227663-20227713	HepG2	liver:	n/a
27	chr3:20412342-20412392	Hela-S3	cervix:	n/a
28	chr3:20195067-20195117	Hela-S3	cervix:	n/a
29	chr3:20589760-20589810	ECC-1	luminal epithelium:	n/a
30	chr3:20227397-20227447	PrEC	prostate:	n/a
31	chr3:20227091-20227141	SAEC	small airway:	n/a
32	chr3:20228976-20229026	Caco-2	colon:	n/a
33	chr3:20412342-20412392	ovcar-3	ovarian:	n/a
34	chr3:20226964-20227014	IMR90	lung:	fetal
35	chr3:20227801-20227851	HRPEpiC	eye:	n/a
36	chr3:20522301-20522351	HNPCEpiC	eye:	n/a
37	chr3:20412342-20412392	SK-N-MC	brain:	n/a
38	chr3:20418856-20418906	AG09309	skin:	n/a
39	chr3:20418856-20418906	HEK293	kidney:	embryo
40	chr3:20589671-20589721	HRCEpiC	kidney:	n/a
41	chr3:20227809-20227859	GM12878	blood:	n/a
42	chr3:20227670-20227720	AoSMC	blood vessel:	n/a
43	chr3:20589671-20589721	RPTEC	kidney:	n/a
44	chr3:20589671-20589721	MCF-7	breast:	n/a
45	chr3:20227822-20227872	HAEpiC	amniotic membrane:	n/a
46	chr3:20227809-20227859	Caco-2	colon:	n/a
47	chr3:20227801-20227851	ovcar-3	ovarian:	n/a
48	chr3:20321584-20321634	MCF10A-Er-Src	breast:	n/a
49	chr3:20371290-20371340	HUVEC	blood vessel:	n/a
50	chr3:20227822-20227872	GM12891	blood:	n/a

(count:191 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr3:20208211..20212087-chr3:20224920..20227676,5	K562	blood:
2	chr3:20365682..20367813-chr3:20369993..20373801,3	K562	blood:
3	chr3:20080757..20082677-chr3:20192981..20195193,2	K562	blood:
4	chr3:20160386..20162756-chr3:20172063..20173693,2	K562	blood:
5	chr3:20381610..20382290-chr3:22159023..22159894,2	MCF-7	breast:
6	chr3:20219250..20222131-chr3:20228592..20230370,2	K562	blood:
7	chr3:19987552..19989415-chr3:20155282..20158002,2	MCF-7	breast:
8	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
9	chr3:20200366..20203372-chr3:20209857..20212107,3	K562	blood:
10	chr3:20197127..20199080-chr3:20208900..20210840,2	MCF-7	breast:
11	chr3:20228018..20229588-chr3:20240700..20242261,2	K562	blood:
12	chr3:20436330..20438604-chr3:20439437..20442062,2	MCF-7	breast:
13	chr3:20370553..20372483-chr3:20373507..20376475,2	K562	blood:
14	chr3:20210669..20212300-chr3:20217697..20220649,2	K562	blood:
15	chr3:20369262..20370826-chr3:20371574..20373222,2	K562	blood:
16	chr3:20161536..20163874-chr3:20167611..20170613,5	K562	blood:
17	chr3:20231614..20234175-chr3:20236441..20238488,2	K562	blood:
18	chr3:20188934..20192869-chr3:20226143..20228338,3	MCF-7	breast:
19	chr3:20576686..20578791-chr3:20582822..20585429,2	MCF-7	breast:
20	chr3:20361855..20364563-chr3:20364654..20366618,2	K562	blood:
21	chr3:20545213..20547317-chr3:20547570..20549760,2	K562	blood:
22	chr3:20451777..20453884-chr3:20476566..20478123,2	K562	blood:
23	chr3:20381543..20382061-chr3:21935726..21936559,2	MCF-7	breast:
24	chr3:20333199..20337962-chr3:20339317..20343120,4	K562	blood:
25	chr3:20225982..20227551-chr3:20349845..20352725,2	K562	blood:
26	chr3:20375934..20377835-chr3:20379796..20382067,2	MCF-7	breast:
27	chr3:19985145..19990136-chr3:20225418..20228312,6	K562	blood:
28	chr3:20212391..20215096-chr3:20215867..20218986,3	K562	blood:
29	chr3:20384572..20387306-chr3:20389164..20391622,2	K562	blood:
30	chr3:20154687..20157429-chr3:20160845..20162920,2	K562	blood:
31	chr3:20197490..20199260-chr3:20227955..20230018,2	K562	blood:
32	chr3:20223638..20225446-chr3:20225885..20227918,2	MCF-7	breast:
33	chr3:20195318..20197314-chr3:20202622..20204510,2	MCF-7	breast:
34	chr3:20185698..20188649-chr3:20188952..20191423,4	K562	blood:
35	chr3:20255206..20257186-chr3:20272224..20273896,2	K562	blood:
36	chr3:20215671..20219222-chr3:20225067..20228168,4	MCF-7	breast:
37	chr3:20201533..20203572-chr3:20204589..20206739,2	K562	blood:
38	chr3:20188319..20191715-chr3:20218902..20221810,3	K562	blood:
39	chr3:20227831..20229515-chr3:20229924..20231692,2	MCF-7	breast:
40	chr3:20358467..20362257-chr3:20366935..20370675,4	K562	blood:
41	chr3:19987774..19989392-chr3:20231819..20233380,2	MCF-7	breast:
42	chr3:20368039..20370603-chr3:20372170..20374733,2	K562	blood:
43	chr3:20225982..20227551-chr3:20349845..20352725,2	K562	blood:
44	chr3:20266881..20267830-chr3:21935770..21936618,4	MCF-7	breast:
45	chr3:20352341..20352841-chr6:144261197..144261734,2	MCF-7	breast:
46	chr3:20206092..20207782-chr3:20216460..20218892,2	K562	blood:
47	chr3:20378280..20380658-chr3:21571258..21574044,2	K562	blood:
48	chr3:20514130..20516158-chr3:20517415..20519398,2	K562	blood:
49	chr3:20211282..20213997-chr3:20225429..20228054,3	MCF-7	breast:
50	chr3:20187588..20190106-chr3:20193535..20195392,3	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-1	chr3:20227467-20227607	ENSG00000237485.1
2	lnc-KAT2B-1	chr3:20215778-20216017	ENSG00000237485.1
3	lnc-KAT2B-2	chr3:20392207-20392420	XLOC_002595
4	lnc-KAT2B-2	chr3:20387152-20387274	XLOC_002595
5	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
6	lnc-KAT2B-3	chr3:20429741-20432054	ENSG00000261734.1
7	lnc-KAT2B-2	chr3:20387157-20387558	XLOC_002595
8	lnc-KAT2B-2	chr3:20389489-20389501	XLOC_002595
9	lnc-KAT2B-1	chr3:20227726-20230848	NONHSAT088617
10	lnc-KAT2B-2	chr3:20383960-20385528	XLOC_002595
11	lnc-KAT2B-1	chr3:20215736-20216017	ENSG00000237485.1
12	lnc-KAT2B-5	chr3:20202876-20203154	l_2328_chr3:20202875-20210905_testes
13	lnc-PP2D1-2	chr3:20212535-20212759	NONHSAT088614
14	lnc-KAT2B-6	chr3:20286533-20287951	NONHSAT088619
15	lnc-KAT2B-5	chr3:20210846-20210905	l_2328_chr3:20202875-20210905_testes
16	lnc-KAT2B-1	chr3:20216227-20216310	ENSG00000237485.1
17	lnc-KAT2B-2	chr3:20389488-20389501	NONHSAT088622
18	lnc-KAT2B-2	chr3:20389489-20389581	XLOC_002595
19	lnc-KAT2B-2	chr3:20387517-20387558	XLOC_002595
20	lnc-PP2D1-2	chr3:20211553-20212307	NONHSAT088614
21	lnc-KAT2B-2	chr3:20387156-20387558	NONHSAT088622
22	lnc-KAT2B-1	chr3:20227467-20227919	ENSG00000237485.1
23	lnc-KAT2B-1	chr3:20218709-20218742	ENSG00000237485.1

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3135a	chr3:20179066-20179087	MIMAT0015001

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KAT2B	hsa-miR-181a-5p	chr3:20194367-20194390
2	KAT2B	hsa-miR-25-3p	chr3:20195750-20195772
3	KAT2B	hsa-miR-93-5p	chr3:20194137-20194143
4	KAT2B	hsa-miR-32-5p	chr3:20195765-20195772
5	KAT2B	hsa-miR-25-3p	chr3:20195765-20195772
6	KAT2B	hsa-miR-93-5p	chr3:20195701-20195723
7	KAT2B	hsa-miR-92a-3p	chr3:20195750-20195772
8	KAT2B	hsa-miR-32-5p	chr3:20195750-20195772
9	KAT2B	hsa-miR-106b-5p	chr3:20194123-20194144
10	KAT2B	hsa-miR-106b-5p	chr3:20194137-20194143
11	KAT2B	hsa-miR-93-5p	chr3:20194121-20194144
12	KAT2B	hsa-miR-92a-3p	chr3:20195765-20195772
13	KAT2B	hsa-miR-106b-5p	chr3:20195703-20195723
14	KAT2B	hsa-miR-181b-5p	chr3:20194367-20194390

Variant related genes	Relation type
KAT2B	TF binding region
RNU6-815P	TF binding region
MIR3135A	TF binding region
RNU6-822P	TF binding region
ENSG00000231304	TF binding region
RNY4P22	TF binding region
ENSG00000261734	TF binding region
SGOL1-AS1	TF binding region
SGOL1	TF binding region
KAT2B	CpG island
RNU6-815P	CpG island
MIR3135A	CpG island
RNU6-822P	CpG island
ENSG00000231304	CpG island
RNY4P22	CpG island
ENSG00000261734	CpG island
SGOL1-AS1	CpG island
SGOL1	CpG island
ENSG00000206807	chromatin interactions
ENSG00000252442	chromatin interactions
ENSG00000234779	chromatin interactions
ENSG00000158158	chromatin interactions
ENSG00000126226	chromatin interactions
ENSG00000144566	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000114166	chromatin interactions
ENSG00000214013	chromatin interactions
ENSG00000117625	chromatin interactions
ENSG00000266745	chromatin interactions
ENSG00000237485	chromatin interactions
ENSG00000103978	chromatin interactions
ENSG00000229468	chromatin interactions
ENSG00000163576	chromatin interactions

Extended variants
information (count: 14186 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:14186 , 50 per page) page: 1 2 3 4 5 6 7 ... 284

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6771941	chr3:20157077-20157078	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558379839	chr3:20157093-20157094	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs147272751	chr3:20157128-20157129	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs541551604	chr3:20157176-20157177	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559607899	chr3:20157195-20157196	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs540679395	chr3:20157224-20157225	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs542248177	chr3:20157240-20157241	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs183144836	chr3:20157276-20157277	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs140783456	chr3:20157341-20157342	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs546396880	chr3:20157351-20157352	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553622061	chr3:20157418-20157419	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs370723532	chr3:20157449-20157450	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs564703590	chr3:20157501-20157502	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs528692079	chr3:20157556-20157557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs377606078	chr3:20157584-20157585	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs185521681	chr3:20157598-20157599	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs560893880	chr3:20157632-20157633	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs529649546	chr3:20157661-20157662	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12631457	chr3:20157675-20157676	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569613394	chr3:20157699-20157700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs536980014	chr3:20157725-20157726	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs558317953	chr3:20157750-20157751	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs12631479	chr3:20157777-20157778	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs542450907	chr3:20157795-20157796	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs62243135	chr3:20157827-20157828	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534538817	chr3:20157934-20157935	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs190317339	chr3:20157949-20157950	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs112875713	chr3:20158015-20158016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540988888	chr3:20158031-20158032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183055950	chr3:20158032-20158033	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs377496534	chr3:20158085-20158086	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs542239913	chr3:20158102-20158103	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557418198	chr3:20158105-20158106	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs562684063	chr3:20158115-20158116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs575991732	chr3:20158135-20158136	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs546484996	chr3:20158207-20158208	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs564644357	chr3:20158214-20158215	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs528637428	chr3:20158258-20158259	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs540477937	chr3:20158264-20158265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs559387739	chr3:20158277-20158278	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187731576	chr3:20158291-20158292	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs559158850	chr3:20158336-20158337	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547764659	chr3:20158350-20158351	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569349306	chr3:20158393-20158394	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs530443836	chr3:20158455-20158456	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs149776064	chr3:20158505-20158506	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs77307755	chr3:20158543-20158544	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs76516479	chr3:20158580-20158581	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs34236820	chr3:20158592-20158593	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs200701344	chr3:20158601-20158602	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Prostate cancer	19363497	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2467 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20116400-20194800	Weak transcription	NHDF-Ad	bronchial
2	chr3:20128200-20175800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:20135200-20173800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:20139000-20164000	Weak transcription	Small Intestine	intestine
5	chr3:20139800-20161000	Weak transcription	Fetal Intestine Small	intestine
6	chr3:20141200-20167400	Weak transcription	HSMMtube	muscle
7	chr3:20141200-20222400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:20142600-20189400	Weak transcription	Fetal Brain Male	brain
9	chr3:20144600-20162000	Weak transcription	Fetal Heart	heart
10	chr3:20146400-20157600	Weak transcription	Fetal Brain Female	brain
11	chr3:20146400-20163400	Weak transcription	Brain Germinal Matrix	brain
12	chr3:20147400-20169600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:20147600-20194200	Weak transcription	Dnd41	blood
14	chr3:20148000-20167000	Weak transcription	GM12878-XiMat	blood
15	chr3:20148800-20159200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr3:20150000-20159800	Strong transcription	Primary T cells from cord blood	blood
17	chr3:20150200-20158600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:20150800-20159400	Strong transcription	Fetal Thymus	thymus
19	chr3:20150800-20166200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr3:20151000-20196800	Weak transcription	Stomach Mucosa	stomach
21	chr3:20151200-20159800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:20151200-20179000	Weak transcription	Fetal Kidney	kidney
23	chr3:20151600-20158800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:20151600-20175800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:20152000-20182800	Weak transcription	Colonic Mucosa	Colon
26	chr3:20152200-20162600	Strong transcription	Thymus	Thymus
27	chr3:20152400-20159400	Strong transcription	Stomach Smooth Muscle	stomach
28	chr3:20152400-20162600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr3:20152600-20159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr3:20152600-20159600	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:20152600-20175200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:20152800-20157200	Strong transcription	Fetal Intestine Large	intestine
33	chr3:20152800-20159200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr3:20152800-20159200	Strong transcription	Liver	Liver
35	chr3:20152800-20159400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr3:20152800-20170200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:20152800-20175000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr3:20152800-20176200	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr3:20153000-20157200	Strong transcription	Brain Hippocampus Middle	brain
40	chr3:20153000-20159200	Strong transcription	Fetal Lung	lung
41	chr3:20153000-20159400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr3:20153000-20159400	Strong transcription	Adipose Nuclei	Adipose
43	chr3:20153000-20159400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr3:20153200-20158800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:20153200-20158800	Strong transcription	Placenta	Placenta
46	chr3:20153200-20159200	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:20153200-20159800	Strong transcription	Primary B cells from cord blood	blood
48	chr3:20153400-20159400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr3:20153400-20167200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr3:20153600-20169200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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