Variant report

Variant	nsv1058604
Chromosome Location	chr22:23497533-23545751
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2166)
CpG islands
(count:1039)
Chromatin interactive
region (count:135)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2166 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23521829-23522008	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23525661-23525714	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23521656-23523361	K562	blood:	n/a	n/a
4	ARID3A	chr22:23498910-23498940	K562	blood:	n/a	n/a
5	ARID3A	chr22:23523715-23523919	K562	blood:	n/a	n/a
6	ARID3A	chr22:23520640-23520860	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:23516134-23516678	K562	blood:	n/a	n/a
8	ARID3A	chr22:23529370-23530237	K562	blood:	n/a	n/a
9	ARID3A	chr22:23520621-23521456	K562	blood:	n/a	n/a
10	ARID3A	chr22:23516230-23516379	HepG2	liver:	n/a	n/a
11	ARID3A	chr22:23525494-23526949	K562	blood:	n/a	n/a
12	ATF1	chr22:23538952-23539529	K562	blood:	n/a	n/a
13	ATF1	chr22:23519303-23519877	K562	blood:	n/a	n/a
14	ATF1	chr22:23501708-23501866	K562	blood:	n/a	n/a
15	ATF3	chr22:23498300-23498792	K562	blood:	n/a	n/a
16	ATF3	chr22:23505854-23506455	K562	blood:	n/a	n/a
17	ATF3	chr22:23507070-23507648	K562	blood:	n/a	n/a
18	ATF3	chr22:23520534-23526374	K562	blood:	n/a	chr22:23522614-23522623 chr22:23525736-23525745
19	ATF3	chr22:23539641-23541079	K562	blood:	n/a	chr22:23540244-23540253
20	ATF3	chr22:23499660-23500144	K562	blood:	n/a	n/a
21	ATF3	chr22:23500192-23500567	K562	blood:	n/a	n/a
22	ATF3	chr22:23511048-23511637	K562	blood:	n/a	n/a
23	ATF3	chr22:23498871-23499576	K562	blood:	n/a	chr22:23499079-23499092
24	ATF3	chr22:23516122-23516603	K562	blood:	n/a	n/a
25	ATF3	chr22:23538322-23538831	K562	blood:	n/a	n/a
26	ATF3	chr22:23504181-23505034	K562	blood:	n/a	n/a
27	ATF3	chr22:23518587-23520390	K562	blood:	n/a	n/a
28	BACH1	chr22:23522173-23522192	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr22:23523574-23526581	K562	blood:	n/a	n/a
30	BACH1	chr22:23520646-23522641	K562	blood:	n/a	n/a
31	BACH1	chr22:23529919-23530182	K562	blood:	n/a	n/a
32	BACH1	chr22:23534463-23534663	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr22:23517799-23517832	K562	blood:	n/a	n/a
34	BACH1	chr22:23499106-23499415	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr22:23518212-23518316	K562	blood:	n/a	n/a
36	BACH1	chr22:23524339-23524353	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr22:23523248-23523648	H1-hESC	embryonic stem cell:	n/a	n/a
38	BATF	chr22:23524623-23525029	GM12878	blood:	n/a	n/a
39	BCLAF1	chr22:23520599-23520999	GM12878	blood:	n/a	n/a
40	BHLHE40	chr22:23540924-23540926	K562	blood:	n/a	n/a
41	BHLHE40	chr22:23521763-23521990	GM12878	blood:	n/a	n/a
42	BHLHE40	chr22:23513789-23513797	K562	blood:	n/a	n/a
43	BHLHE40	chr22:23499061-23499433	K562	blood:	n/a	n/a
44	BHLHE40	chr22:23534947-23535007	K562	blood:	n/a	n/a
45	BHLHE40	chr22:23516114-23516513	K562	blood:	n/a	n/a
46	BHLHE40	chr22:23529485-23530325	K562	blood:	n/a	n/a
47	BHLHE40	chr22:23522528-23523161	GM12878	blood:	n/a	n/a
48	BHLHE40	chr22:23539799-23540568	K562	blood:	n/a	chr22:23540244-23540253 chr22:23540238-23540259 chr22:23540243-23540252 chr22:23540242-23540255 chr22:23540244-23540253
49	BHLHE40	chr22:23520618-23526307	K562	blood:	n/a	n/a
50	BHLHE40	chr22:23500080-23500761	HepG2	liver:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23522551-23522601	ProgFib	skin:	n/a
2	chr22:23528162-23528212	SAEC	small airway:	n/a
3	chr22:23522551-23522601	ProgFib	skin:	n/a
4	chr22:23528162-23528212	SAEC	small airway:	n/a
5	chr22:23522460-23522510	HCM	heart:	n/a
6	chr22:23522374-23522424	BE2_C	brain:	n/a
7	chr22:23522492-23522542	HCT-116	colon:	n/a
8	chr22:23521267-23521317	NHBE	bronchial:	n/a
9	chr22:23503927-23503977	HAEpiC	amniotic membrane:	n/a
10	chr22:23523310-23523360	HepG2	liver:	n/a
11	chr22:23522492-23522542	AoSMC	blood vessel:	n/a
12	chr22:23524136-23524186	ECC-1	luminal epithelium:	n/a
13	chr22:23522551-23522601	MCF-7	breast:	n/a
14	chr22:23522551-23522601	HCPEpiC	choroid plexus:	n/a
15	chr22:23522341-23522391	U87	brain:	n/a
16	chr22:23522307-23522357	AG09309	skin:	n/a
17	chr22:23521267-23521317	AG04450	lung:	fetal
18	chr22:23522341-23522391	SK-N-MC	brain:	n/a
19	chr22:23521267-23521317	HIPEpiC	eye:	n/a
20	chr22:23522511-23522561	HCF	heart:	n/a
21	chr22:23522374-23522424	HPAEpiC	pulmonary alveolar:	n/a
22	chr22:23524136-23524186	H1-hESC	embryonic stem cell:	embryo
23	chr22:23519916-23519966	CMK	blood:	n/a
24	chr22:23522492-23522542	A549	lung:	n/a
25	chr22:23528162-23528212	HNPCEpiC	eye:	n/a
26	chr22:23522511-23522561	AG04450	lung:	fetal
27	chr22:23522511-23522561	HRE	kidney:	n/a
28	chr22:23523310-23523360	MCF-7	breast:	n/a
29	chr22:23523942-23523992	GM06990	blood:	n/a
30	chr22:23522748-23522798	A549	lung:	n/a
31	chr22:23522307-23522357	NH-A	brain:	n/a
32	chr22:23522551-23522601	NH-A	brain:	n/a
33	chr22:23522748-23522798	GM12891	blood:	n/a
34	chr22:23522307-23522357	Hela-S3	cervix:	n/a
35	chr22:23522374-23522424	T-47D	breast:	n/a
36	chr22:23521267-23521317	AG09319	gingival:	n/a
37	chr22:23528162-23528212	A549	lung:	n/a
38	chr22:23522474-23522524	U87	brain:	n/a
39	chr22:23522551-23522601	ovcar-3	ovarian:	n/a
40	chr22:23521267-23521317	ECC-1	luminal epithelium:	n/a
41	chr22:23523942-23523992	HRE	kidney:	n/a
42	chr22:23522474-23522524	HRPEpiC	eye:	n/a
43	chr22:23524136-23524186	Jurkat	blood:	n/a
44	chr22:23522460-23522510	NH-A	brain:	n/a
45	chr22:23522748-23522798	AG09319	gingival:	n/a
46	chr22:23524906-23524956	K562	blood:	n/a
47	chr22:23522492-23522542	Hepatocyte	liver:	n/a
48	chr22:23522551-23522601	AG09309	skin:	n/a
49	chr22:23522341-23522391	HUVEC	blood vessel:	n/a
50	chr22:23523310-23523360	SK-N-MC	brain:	n/a

(count:135 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:23493765..23495502-chr22:23500270..23503203,2	MCF-7	breast:
2	chr22:23487601..23489180-chr22:23514831..23516352,2	MCF-7	breast:
3	chr22:23499285..23501441-chr22:23509094..23511790,2	MCF-7	breast:
4	chr22:23520782..23521294-chr22:23611645..23612373,2	MCF-7	breast:
5	chr22:23501040..23501869-chr22:23623926..23624698,2	K562	blood:
6	chr22:23502877..23504665-chr9:133634007..133636359,2	K562	blood:
7	chr22:23461434..23463209-chr22:23523024..23524545,2	K562	blood:
8	chr22:23515840..23516765-chr9:133873737..133874363,3	K562	blood:
9	chr22:23515967..23516810-chr22:23623905..23625091,6	MCF-7	breast:
10	chr22:23520788..23521291-chr22:23578289..23578791,2	K562	blood:
11	chr22:23522919..23527024-chr9:133630421..133633989,3	K562	blood:
12	chr22:23515800..23516842-chr9:133741551..133742398,3	K562	blood:
13	chr22:23535749..23536292-chr22:23624579..23625352,2	K562	blood:
14	chr22:23522764..23523306-chr9:133738661..133739192,2	K562	blood:
15	chr22:23522566..23524379-chr6:26053067..26054822,2	K562	blood:
16	chr16:67312530..67313094-chr22:23523197..23523963,2	Hela-S3	cervix:
17	chr22:23463011..23465169-chr22:23496173..23498310,2	K562	blood:
18	chr22:23533236..23535920-chr22:23537412..23541871,4	MCF-7	breast:
19	chr22:23520992..23525924-chr22:23533484..23536719,11	MCF-7	breast:
20	chr22:23534219..23534727-chr22:23611586..23612126,2	MCF-7	breast:
21	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
22	chr22:23498644..23499185-chr9:133873411..133873919,2	K562	blood:
23	chr22:23493175..23494139-chr22:23509321..23510213,3	MCF-7	breast:
24	chr22:23500320..23500821-chr22:23623680..23624207,2	K562	blood:
25	chr22:23520305..23521309-chr22:23631752..23633320,11	K562	blood:
26	chr22:23520400..23521352-chr9:133873402..133874291,3	K562	blood:
27	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
28	chr22:23524748..23526644-chr22:23623688..23624869,6	K562	blood:
29	chr22:23520341..23521308-chr22:23602297..23603379,4	K562	blood:
30	chr13:91999405..92003025-chr22:23522118..23524074,3	K562	blood:
31	chr22:23515729..23516735-chr22:23631823..23632868,6	K562	blood:
32	chr22:23504913..23506632-chr9:133736347..133738132,2	K562	blood:
33	chr22:23519987..23526245-chr22:23526726..23532791,14	MCF-7	breast:
34	chr22:23537013..23539168-chr22:23545643..23548469,2	MCF-7	breast:
35	chr22:23518801..23520125-chr22:23623736..23625336,5	K562	blood:
36	chr22:23301131..23301755-chr22:23504260..23504993,2	K562	blood:
37	chr22:23515798..23516743-chr9:133738457..133739632,6	K562	blood:
38	chr22:23524791..23527515-chr22:23557976..23560778,2	MCF-7	breast:
39	chr22:23523350..23525203-chr22:23562155..23564317,2	MCF-7	breast:
40	chr22:23435451..23438238-chr22:23506678..23508386,2	K562	blood:
41	chr22:23498268..23499065-chr22:23520404..23521247,2	K562	blood:
42	chr22:23499317..23501523-chr22:23519900..23522809,2	MCF-7	breast:
43	chr22:23520350..23521289-chr22:23611618..23612941,3	K562	blood:
44	chr22:23525119..23527283-chr9:133607796..133612405,5	K562	blood:
45	chr22:23537450..23540017-chr22:23544428..23546912,2	MCF-7	breast:
46	chr22:23519177..23520782-chr22:23631685..23633544,2	MCF-7	breast:
47	chr22:23509292..23512238-chr9:133647863..133649555,2	K562	blood:
48	chr22:23516237..23516764-chr22:23611954..23612933,2	K562	blood:
49	chr22:23522033..23525900-chr22:23589634..23593895,5	MCF-7	breast:
50	chr22:23521661..23525875-chr22:23541673..23544997,4	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB36-2	chr22:23540519-23540572	NONHSAT083862
2	lnc-RAB36-2	chr22:23541398-23541539	NONHSAT083862
3	lnc-RTDR1-2	chr22:23522105-23522359	NONHSAT083858
4	lnc-RAB36-2	chr22:23541399-23541539	NONHSAT083863
5	lnc-RAB36-2	chr22:23540520-23540572	NONHSAT083863

No data

Variant related genes	Relation type
BCRP8	TF binding region
BCR	TF binding region
BCRP8	CpG island
BCR	CpG island
ENSG00000215417	chromatin interactions
ENSG00000130720	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000126883	chromatin interactions
ENSG00000240160	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000128266	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000196155	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000100228	chromatin interactions
ENSG00000116741	chromatin interactions
ENSG00000100218	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000230701	chromatin interactions
ENSG00000220891	chromatin interactions

Extended variants
information (count: 2280 )
Associated
traits (count: 210 )

Variant overlapped rSNPs/rCNVs (count:2280 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112965537	chr22:23497549-23497550	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577460371	chr22:23497550-23497551	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs539995359	chr22:23497552-23497553	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111677839	chr22:23497593-23497594	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs5751592	chr22:23497674-23497675	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs576282221	chr22:23497676-23497677	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552458660	chr22:23497700-23497701	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185386841	chr22:23497757-23497758	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562025867	chr22:23497766-23497767	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527546794	chr22:23497767-23497768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs5759605	chr22:23497791-23497792	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs5759606	chr22:23497793-23497794	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541070047	chr22:23497812-23497813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563731859	chr22:23497829-23497830	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs532899956	chr22:23497846-23497847	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs549446480	chr22:23497862-23497863	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569386809	chr22:23497868-23497869	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs140105559	chr22:23497872-23497873	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs116771360	chr22:23497894-23497895	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs568737002	chr22:23497922-23497923	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149827982	chr22:23497931-23497932	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554176548	chr22:23497933-23497934	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs570843122	chr22:23497972-23497973	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs539967359	chr22:23497979-23497980	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs556710089	chr22:23497985-23497986	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576565824	chr22:23497996-23497997	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs5759607	chr22:23497998-23497999	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs574125655	chr22:23498023-23498024	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs548646680	chr22:23498028-23498029	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs113158963	chr22:23498046-23498047	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs540954253	chr22:23498047-23498048	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563770671	chr22:23498080-23498081	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375818016	chr22:23498108-23498109	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs548252262	chr22:23498111-23498112	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs200072747	chr22:23498165-23498166	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542976886	chr22:23498187-23498188	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563050855	chr22:23498189-23498190	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs369079742	chr22:23498191-23498192	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs371299556	chr22:23498206-23498207	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs374813820	chr22:23498207-23498208	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs190282767	chr22:23498235-23498236	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs555636462	chr22:23498236-23498237	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs373643310	chr22:23498238-23498239	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs568429342	chr22:23498252-23498253	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs192840494	chr22:23498262-23498263	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs377684015	chr22:23498281-23498282	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184982434	chr22:23498283-23498284	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs145848452	chr22:23498294-23498295	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528021105	chr22:23498295-23498296	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs548087016	chr22:23498312-23498313	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:210)

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
Breast cancer	22522925	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD

Chromatin state (count:2366 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23487800-23499000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr22:23488000-23499400	Weak transcription	Right Ventricle	heart
3	chr22:23488200-23505800	Weak transcription	HSMMtube	muscle
4	chr22:23488400-23499000	Weak transcription	Colonic Mucosa	Colon
5	chr22:23488400-23499000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:23488400-23499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:23488400-23505800	Weak transcription	Brain Substantia Nigra	brain
8	chr22:23488600-23505800	Weak transcription	Brain Germinal Matrix	brain
9	chr22:23488600-23506800	Weak transcription	A549	lung
10	chr22:23488800-23505400	Weak transcription	Fetal Brain Male	brain
11	chr22:23489200-23499800	Weak transcription	NHLF	lung
12	chr22:23489800-23498400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:23490200-23500200	Weak transcription	Fetal Lung	lung
14	chr22:23490200-23504800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr22:23490400-23498400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr22:23490400-23499000	Weak transcription	Stomach Mucosa	stomach
17	chr22:23490400-23506800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
19	chr22:23490600-23498600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:23491000-23498000	Weak transcription	Gastric	stomach
21	chr22:23491000-23504600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:23491200-23512000	Strong transcription	Right Atrium	heart
23	chr22:23491800-23499400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr22:23492200-23505800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:23492400-23498200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr22:23492400-23498600	Strong transcription	Fetal Stomach	stomach
27	chr22:23492400-23509000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:23492400-23518000	Weak transcription	Esophagus	oesophagus
29	chr22:23493000-23505800	Weak transcription	Adipose Nuclei	Adipose
30	chr22:23493200-23498400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr22:23493200-23502000	Enhancers	Placenta	Placenta
32	chr22:23493600-23505800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:23493600-23510800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr22:23493800-23506200	Weak transcription	Colon Smooth Muscle	Colon
35	chr22:23493800-23506200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr22:23494400-23498600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr22:23494600-23498800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:23494600-23499200	Weak transcription	Hela-S3	cervix
39	chr22:23494600-23500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:23495000-23497800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:23495200-23499000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:23495200-23499000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr22:23495600-23499000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:23495800-23499000	Weak transcription	NHEK	skin
45	chr22:23495800-23499200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:23495800-23499200	Weak transcription	GM12878-XiMat	blood
47	chr22:23495800-23502000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr22:23495800-23504000	Weak transcription	Spleen	Spleen
49	chr22:23495800-23504800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr22:23495800-23505800	Weak transcription	Brain Angular Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links