Variant report

Variant	nsv1002647
Chromosome Location	chr2:182078521-182392273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2963)
CpG islands
(count:1651)
Chromatin interactive
region (count:36)
LncRNA
region (count:35)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:2963 , 50 per page) page: 1 2 3 4 5 6 7 ... 60

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:182258269-182258559	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:182104135-182104418	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:182170177-182170871	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:182121235-182121240	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:182331432-182331773	HepG2	liver:	n/a	chr2:182331499-182331515 chr2:182331500-182331516
6	ATF1	chr2:182138054-182138109	K562	blood:	n/a	n/a
7	ATF1	chr2:182260522-182260632	K562	blood:	n/a	n/a
8	ATF1	chr2:182282542-182282680	K562	blood:	n/a	n/a
9	ATF1	chr2:182333218-182333316	K562	blood:	n/a	n/a
10	ATF1	chr2:182258166-182258416	K562	blood:	n/a	n/a
11	ATF1	chr2:182085028-182085085	K562	blood:	n/a	n/a
12	ATF2	chr2:182100596-182101412	GM12878	blood:	n/a	n/a
13	ATF2	chr2:182212803-182213384	GM12878	blood:	n/a	n/a
14	ATF2	chr2:182169876-182170966	GM12878	blood:	n/a	n/a
15	ATF2	chr2:182100306-182101332	GM12878	blood:	n/a	n/a
16	ATF2	chr2:182335535-182336337	GM12878	blood:	n/a	n/a
17	ATF2	chr2:182176746-182177929	GM12878	blood:	n/a	n/a
18	ATF2	chr2:182106505-182106967	GM12878	blood:	n/a	n/a
19	ATF2	chr2:182275799-182276120	GM12878	blood:	n/a	n/a
20	ATF2	chr2:182168565-182169363	GM12878	blood:	n/a	n/a
21	ATF2	chr2:182212712-182213688	GM12878	blood:	n/a	n/a
22	ATF2	chr2:182239410-182239909	GM12878	blood:	n/a	n/a
23	ATF2	chr2:182321209-182323049	GM12878	blood:	n/a	n/a
24	ATF2	chr2:182169903-182171019	GM12878	blood:	n/a	n/a
25	ATF2	chr2:182178429-182179115	GM12878	blood:	n/a	n/a
26	ATF2	chr2:182176597-182177845	GM12878	blood:	n/a	n/a
27	ATF2	chr2:182222615-182223115	GM12878	blood:	n/a	n/a
28	ATF2	chr2:182173487-182174320	GM12878	blood:	n/a	n/a
29	ATF2	chr2:182321265-182321738	GM12878	blood:	n/a	n/a
30	ATF2	chr2:182239366-182240330	GM12878	blood:	n/a	n/a
31	ATF2	chr2:182171433-182171973	GM12878	blood:	n/a	n/a
32	BACH1	chr2:182303106-182303411	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr2:182199792-182199810	H1-hESC	embryonic stem cell:	n/a	n/a
34	BACH1	chr2:182321237-182322496	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr2:182322955-182323017	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr2:182381241-182381280	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr2:182331488-182331723	H1-hESC	embryonic stem cell:	n/a	n/a
38	BATF	chr2:182100461-182101254	GM12878	blood:	n/a	n/a
39	BATF	chr2:182106604-182106949	GM12878	blood:	n/a	n/a
40	BATF	chr2:182239373-182239785	GM12878	blood:	n/a	chr2:182239615-182239623 chr2:182239697-182239706
41	BATF	chr2:182212849-182213207	GM12878	blood:	n/a	n/a
42	BATF	chr2:182321339-182321696	GM12878	blood:	n/a	n/a
43	BATF	chr2:182100794-182101235	GM12878	blood:	n/a	n/a
44	BATF	chr2:182133193-182133523	GM12878	blood:	n/a	n/a
45	BATF	chr2:182219433-182219624	GM12878	blood:	n/a	chr2:182219559-182219570
46	BATF	chr2:182219336-182219722	GM12878	blood:	n/a	chr2:182219559-182219570
47	BATF	chr2:182212835-182213156	GM12878	blood:	n/a	n/a
48	BATF	chr2:182177096-182177730	GM12878	blood:	n/a	n/a
49	BATF	chr2:182177249-182177688	GM12878	blood:	n/a	n/a
50	BATF	chr2:182239358-182239849	GM12878	blood:	n/a	chr2:182239615-182239623 chr2:182239697-182239706

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:182386517-182386567	PrEC	prostate:	n/a
2	chr2:182321855-182321905	IMR90	lung:	fetal
3	chr2:182183372-182183422	NHDF-neo	bronchial:	n/a
4	chr2:182131513-182131563	HRE	kidney:	n/a
5	chr2:182386517-182386567	PrEC	prostate:	n/a
6	chr2:182321855-182321905	IMR90	lung:	fetal
7	chr2:182183372-182183422	NHDF-neo	bronchial:	n/a
8	chr2:182131513-182131563	HRE	kidney:	n/a
9	chr2:182386517-182386567	SK-N-SH	brain:	n/a
10	chr2:182325952-182326002	SK-N-MC	brain:	n/a
11	chr2:182321373-182321423	AG04449	skin:	fetal
12	chr2:182247492-182247542	HepG2	liver:	n/a
13	chr2:182237681-182237731	H1-hESC	embryonic stem cell:	embryo
14	chr2:182303206-182303256	NHDF-neo	bronchial:	n/a
15	chr2:182237681-182237731	T-47D	breast:	n/a
16	chr2:182386600-182386650	NT2-D1	testis:	n/a
17	chr2:182237681-182237731	GM12891	blood:	n/a
18	chr2:182303206-182303256	HRCEpiC	kidney:	n/a
19	chr2:182269967-182270017	HRCEpiC	kidney:	n/a
20	chr2:182321489-182321539	NB4	blood:	n/a
21	chr2:182320901-182320951	H1-hESC	embryonic stem cell:	embryo
22	chr2:182386517-182386567	HIPEpiC	eye:	n/a
23	chr2:182321855-182321905	Hepatocyte	liver:	n/a
24	chr2:182322279-182322329	U87	brain:	n/a
25	chr2:182171470-182171520	HepG2	liver:	n/a
26	chr2:182321489-182321539	ProgFib	skin:	n/a
27	chr2:182321786-182321836	GM19239	blood:	n/a
28	chr2:182237681-182237731	SAEC	small airway:	n/a
29	chr2:182319707-182319757	HRPEpiC	eye:	n/a
30	chr2:182321496-182321546	AG09319	gingival:	n/a
31	chr2:182321786-182321836	AG04450	lung:	fetal
32	chr2:182386517-182386567	T-47D	breast:	n/a
33	chr2:182361913-182361963	K562	blood:	n/a
34	chr2:182321496-182321546	NHDF-neo	bronchial:	n/a
35	chr2:182321496-182321546	Hela-S3	cervix:	n/a
36	chr2:182321496-182321546	K562	blood:	n/a
37	chr2:182321855-182321905	A549	lung:	n/a
38	chr2:182322749-182322799	PANC-1	pancreas:	n/a
39	chr2:182322268-182322318	AG10803	skin:	n/a
40	chr2:182321489-182321539	U87	brain:	n/a
41	chr2:182321373-182321423	HCF	heart:	n/a
42	chr2:182321786-182321836	Hela-S3	cervix:	n/a
43	chr2:182386600-182386650	PFSK-1	brain:	n/a
44	chr2:182303206-182303256	Jurkat	blood:	n/a
45	chr2:182322841-182322891	NH-A	brain:	n/a
46	chr2:182322699-182322749	IMR90	lung:	fetal
47	chr2:182322058-182322108	BE2_C	brain:	n/a
48	chr2:182275681-182275731	SK-N-SH	brain:	n/a
49	chr2:182247492-182247542	BJ	skin:	n/a
50	chr2:182321489-182321539	Hepatocyte	liver:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:181969275..181969953-chr2:182330780..182331934,4	MCF-7	breast:
2	chr2:182095672..182098077-chr2:182098545..182101336,2	K562	blood:
3	chr2:182372756..182374433-chr2:182379521..182382235,2	MCF-7	breast:
4	chr2:182267247..182270145-chr2:182271761..182273716,3	K562	blood:
5	chr2:182267247..182270145-chr2:182271761..182273716,2	K562	blood:
6	chr2:182073844..182076497-chr2:182076858..182079352,2	K562	blood:
7	chr2:182096231..182098088-chr2:182100894..182102603,2	K562	blood:
8	chr2:182103920..182104651-chr2:182331149..182331746,3	MCF-7	breast:
9	chr2:182095672..182098077-chr2:182098545..182101336,2	K562	blood:
10	chr2:182301768..182303899-chr2:182304238..182306588,2	MCF-7	breast:
11	chr2:182067091..182069385-chr2:182080584..182082731,2	K562	blood:
12	chr2:182152430..182154076-chr2:182155913..182157660,2	K562	blood:
13	chr2:182331462..182333295-chr2:182337334..182339733,2	K562	blood:
14	chr2:182169176..182171895-chr2:182171917..182174599,2	K562	blood:
15	chr2:182372756..182374433-chr2:182379521..182382235,2	MCF-7	breast:
16	chr2:182314915..182317774-chr2:182409539..182411527,2	MCF-7	breast:
17	chr2:182100728..182102852-chr2:182270118..182272458,2	MCF-7	breast:
18	chr2:182100728..182102852-chr2:182270118..182272458,2	MCF-7	breast:
19	chr2:182331462..182333295-chr2:182337334..182339733,2	K562	blood:
20	chr2:182166896..182168920-chr2:182169212..182171476,2	K562	blood:
21	chr2:182267247..182270145-chr2:182271761..182273716,3	K562	blood:
22	chr2:182152430..182154076-chr2:182155913..182157660,2	K562	blood:
23	chr2:182259081..182260812-chr2:182261016..182263322,2	MCF-7	breast:
24	chr2:182214460..182217002-chr2:182217574..182220535,2	MCF-7	breast:
25	chr2:182096231..182098088-chr2:182100894..182102603,2	K562	blood:
26	chr2:182377600..182382674-chr2:182385236..182387590,5	MCF-7	breast:
27	chr2:182301768..182303899-chr2:182304238..182306588,2	MCF-7	breast:
28	chr14:33876404..33877178-chr2:182331195..182331758,2	MCF-7	breast:
29	chr2:182270023..182271984-chr2:182755929..182757972,2	K562	blood:
30	chr2:182377600..182382674-chr2:182385236..182387590,5	MCF-7	breast:
31	chr2:182302774..182303392-chr2:182579412..182580095,3	MCF-7	breast:
32	chr2:181968911..181970241-chr2:182330712..182332033,4	MCF-7	breast:
33	chr2:182214460..182217002-chr2:182217574..182220535,2	MCF-7	breast:
34	chr2:182267247..182270145-chr2:182271761..182273716,2	K562	blood:
35	chr2:182259081..182260812-chr2:182261016..182263322,2	MCF-7	breast:
36	chr2:182103920..182104651-chr2:182331149..182331746,3	MCF-7	breast:

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CERKL-2	chr2:182243183-182243564	NONHSAT075862
2	lnc-UBE2E3-1	chr2:182091198-182091262	ENSG00000234663
3	lnc-UBE2E3-1	chr2:182227414-182227645	ENSG00000234663
4	lnc-UBE2E3-1	chr2:182219007-182219070	XLOC_001776
5	lnc-CERKL-2	chr2:182270930-182271382	NONHSAT075862
6	lnc-UBE2E3-1	chr2:182204399-182204503	XLOC_001776
7	lnc-UBE2E3-1	chr2:182091198-182091262	XLOC_001776
8	lnc-UBE2E3-5	chr2:182321929-182322578	NONHSAT075871
9	lnc-UBE2E3-1	chr2:182152702-182152801	XLOC_001776
10	lnc-UBE2E3-1	chr2:182228025-182228122	NONHSAT075869
11	lnc-CERKL-1	chr2:182290183-182290476	XLOC_002418
12	lnc-CERKL-2	chr2:182227414-182227645	NONHSAT075862
13	lnc-UBE2E3-1	chr2:182091198-182091262	XLOC_001776
14	lnc-UBE2E3-1	chr2:182205773-182205856	XLOC_001776
15	lnc-UBE2E3-5	chr2:182321952-182322453	NONHSAT075872
16	lnc-CERKL-2	chr2:182286881-182287119	NONHSAT075862
17	lnc-CERKL-2	chr2:182263065-182263392	NONHSAT075862
18	lnc-UBE2E3-1	chr2:182102978-182103177	XLOC_001776
19	lnc-UBE2E3-1	chr2:182091198-182091262	XLOC_001776
20	lnc-UBE2E3-1	chr2:182187388-182187457	XLOC_001776
21	lnc-UBE2E3-1	chr2:182227414-182227638	XLOC_001776
22	lnc-CERKL-2	chr2:182309501-182309557	NONHSAT075862
23	lnc-UBE2E3-1	chr2:182263106-182264286	ENSG00000234663
24	lnc-UBE2E3-1	chr2:182091198-182091262	XLOC_001776
25	lnc-UBE2E3-5	chr2:182322923-182324118	NONHSAT075871
26	lnc-CERKL-2	chr2:182141401-182141798	NONHSAT075862
27	lnc-UBE2E3-1	chr2:182227413-182227645	NONHSAT075869
28	lnc-UBE2E3-1	chr2:182227414-182227645	XLOC_001776
29	lnc-CERKL-1	chr2:182286881-182287119	XLOC_002418
30	lnc-UBE2E3-1	chr2:182206885-182207038	XLOC_001776
31	lnc-UBE2E3-1	chr2:182263106-182264280	XLOC_001776
32	lnc-UBE2E3-1	chr2:182227414-182227575	XLOC_001776
33	lnc-UBE2E3-1	chr2:182127556-182127704	XLOC_001776
34	lnc-UBE2E3-1	chr2:182218935-182219070	XLOC_001776
35	lnc-UBE2E3-1	chr2:182127556-182127704	ENSG00000234663

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4437	chr2:182170320-182170340	MIMAT0018953

No data

Variant related genes	Relation type
MIR4437	TF binding region
ENSG00000226681	TF binding region
ITGA4	TF binding region
MIR4437	CpG island
ENSG00000226681	CpG island
ITGA4	CpG island
ENSG00000260742	chromatin interactions
ENSG00000138434	chromatin interactions
ENSG00000266705	chromatin interactions
TBX21	miRNA target sites
TBRG1	miRNA target sites

Extended variants
information (count: 11837 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:11837 , 50 per page) page: 1 2 3 4 5 6 7 ... 237

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139684277	chr2:182078548-182078549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4254470	chr2:182078577-182078578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531966327	chr2:182078580-182078581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548470775	chr2:182078600-182078601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80063424	chr2:182078619-182078620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533276044	chr2:182078630-182078631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563729979	chr2:182078644-182078645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535595823	chr2:182078651-182078652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547423150	chr2:182078698-182078699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570412587	chr2:182078713-182078714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539435046	chr2:182078716-182078717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375648814	chr2:182078717-182078718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556261711	chr2:182078725-182078726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528124348	chr2:182078779-182078780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145276933	chr2:182078798-182078799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535662538	chr2:182078828-182078829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190287929	chr2:182078854-182078855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs572020793	chr2:182078907-182078908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs183283354	chr2:182078916-182078917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187820211	chr2:182079062-182079063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576865975	chr2:182079165-182079166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545861986	chr2:182079202-182079203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs566527319	chr2:182079255-182079256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368301403	chr2:182079318-182079319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563025471	chr2:182079358-182079359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs546243182	chr2:182079406-182079407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150597563	chr2:182079453-182079454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567829790	chr2:182079505-182079506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542422838	chr2:182079558-182079559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562221974	chr2:182079559-182079560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192745926	chr2:182079592-182079593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372050231	chr2:182079631-182079632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184181597	chr2:182079647-182079648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62180201	chr2:182079676-182079677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548851847	chr2:182079695-182079696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549485807	chr2:182079701-182079702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111611635	chr2:182079709-182079710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76950595	chr2:182079742-182079743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139691298	chr2:182079818-182079819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565586277	chr2:182079849-182079850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187993151	chr2:182079912-182079913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78598871	chr2:182079956-182079957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192465886	chr2:182079994-182079995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539708305	chr2:182080022-182080023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184684078	chr2:182080036-182080037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189069405	chr2:182080089-182080090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576489068	chr2:182080092-182080093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557811554	chr2:182080204-182080205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149783185	chr2:182080331-182080332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6723271	chr2:182080383-182080384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3284 , 50 per page) page: 1 2 3 4 5 6 7 ... 66

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182074800-182087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr2:182078800-182079400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr2:182081800-182082000	Enhancers	Fetal Brain Female	brain
4	chr2:182082000-182082400	Enhancers	Brain Germinal Matrix	brain
5	chr2:182082000-182083000	Weak transcription	Fetal Brain Female	brain
6	chr2:182082400-182082800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:182082800-182083000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:182082800-182083000	Enhancers	Brain Germinal Matrix	brain
9	chr2:182083000-182083200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:182083000-182083200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:182083000-182083400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:182083000-182083600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:182083000-182083600	Flanking Active TSS	Fetal Brain Female	brain
14	chr2:182083000-182083800	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr2:182083200-182083400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:182083200-182083600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:182083200-182083600	Active TSS	Fetal Brain Male	brain
18	chr2:182083200-182083800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:182083400-182083800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:182083400-182084000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:182083600-182084000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:182083600-182084000	Enhancers	Fetal Brain Male	brain
23	chr2:182083600-182084000	Enhancers	Fetal Brain Female	brain
24	chr2:182083600-182084200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:182083800-182084200	Enhancers	Brain Germinal Matrix	brain
26	chr2:182085600-182085800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:182085800-182086000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
28	chr2:182086000-182086200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:182086000-182087600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr2:182086200-182087000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:182086400-182088000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr2:182086400-182090600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:182087000-182089800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr2:182087000-182090600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:182087000-182091000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:182087200-182090000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:182087400-182090600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:182087600-182089400	Enhancers	Primary T cells from cord blood	blood
39	chr2:182087600-182090200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr2:182087600-182090400	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr2:182087800-182088200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:182088000-182088200	Enhancers	Dnd41	blood
43	chr2:182088000-182088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr2:182088000-182089400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:182088400-182105400	Weak transcription	Dnd41	blood
46	chr2:182088600-182089200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:182088600-182089400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr2:182089000-182091400	Weak transcription	Fetal Thymus	thymus
49	chr2:182089200-182090200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:182089400-182089800	Flanking Active TSS	Primary T cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links