Variant report

Variant	nsv1000652
Chromosome Location	chr2:54345892-54469703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:909)
CpG islands
(count:122)
Chromatin interactive
region (count:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:909 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:54454959-54455274	K562	blood:	n/a	n/a
2	ARID3A	chr2:54461132-54461865	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:54439728-54439894	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:54350062-54350502	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:54370914-54371223	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:54433811-54434099	K562	blood:	n/a	n/a
7	ARID3A	chr2:54433752-54434035	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:54434706-54435407	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:54348943-54349803	HepG2	liver:	n/a	n/a
10	ATF1	chr2:54454950-54455267	K562	blood:	n/a	n/a
11	ATF1	chr2:54350171-54350540	K562	blood:	n/a	n/a
12	ATF3	chr2:54454940-54455289	K562	blood:	n/a	n/a
13	BHLHE40	chr2:54351871-54352015	K562	blood:	n/a	n/a
14	BHLHE40	chr2:54403754-54404040	HepG2	liver:	n/a	n/a
15	BHLHE40	chr2:54461298-54461685	HepG2	liver:	n/a	n/a
16	BHLHE40	chr2:54434828-54435348	HepG2	liver:	n/a	n/a
17	BHLHE40	chr2:54350178-54350387	HepG2	liver:	n/a	n/a
18	BRCA1	chr2:54435756-54436226	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr2:54380286-54380610	K562	blood:	n/a	n/a
20	CBX3	chr2:54348068-54348581	K562	blood:	n/a	n/a
21	CBX3	chr2:54464607-54464929	K562	blood:	n/a	n/a
22	CCNT2	chr2:54360834-54361022	K562	blood:	n/a	n/a
23	CCNT2	chr2:54454895-54455175	K562	blood:	n/a	n/a
24	CCNT2	chr2:54415377-54415538	K562	blood:	n/a	n/a
25	CEBPB	chr2:54449946-54450225	K562	blood:	n/a	chr2:54450084-54450095
26	CEBPB	chr2:54461144-54461333	HepG2	liver:	n/a	n/a
27	CEBPB	chr2:54434840-54435280	HepG2	liver:	n/a	chr2:54435016-54435027 chr2:54435015-54435026 chr2:54435015-54435028
28	CEBPB	chr2:54370934-54371212	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:54414408-54414822	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:54414536-54414706	HepG2	liver:	n/a	n/a
31	CEBPB	chr2:54361286-54361486	K562	blood:	n/a	n/a
32	CEBPB	chr2:54434954-54435134	A549	lung:	n/a	chr2:54435016-54435027 chr2:54435015-54435026 chr2:54435015-54435028
33	CEBPB	chr2:54353992-54354196	K562	blood:	n/a	n/a
34	CEBPB	chr2:54467658-54467970	IMR90	lung:	n/a	n/a
35	CEBPB	chr2:54433864-54433944	A549	lung:	n/a	n/a
36	CEBPB	chr2:54436567-54436887	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr2:54403893-54404200	HepG2	liver:	n/a	n/a
38	CEBPB	chr2:54439346-54440048	IMR90	lung:	n/a	chr2:54439415-54439427 chr2:54439853-54439866 chr2:54439853-54439864 chr2:54439854-54439865
39	CEBPB	chr2:54425690-54425890	HepG2	liver:	n/a	chr2:54425796-54425807
40	CEBPB	chr2:54435641-54436313	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:54439728-54439929	A549	lung:	n/a	chr2:54439853-54439866 chr2:54439853-54439864 chr2:54439854-54439865
42	CEBPB	chr2:54461031-54461821	HepG2	liver:	n/a	n/a
43	CEBPB	chr2:54434650-54435265	Hela-S3	cervix:	n/a	chr2:54435016-54435027 chr2:54435015-54435026 chr2:54435015-54435028
44	CEBPB	chr2:54375773-54375864	A549	lung:	n/a	chr2:54375818-54375829
45	CEBPB	chr2:54414462-54414786	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:54409455-54409684	Hela-S3	cervix:	n/a	chr2:54409533-54409544
47	CEBPB	chr2:54399582-54399619	A549	lung:	n/a	n/a
48	CEBPB	chr2:54366681-54366881	HepG2	liver:	n/a	chr2:54366707-54366718
49	CEBPB	chr2:54461471-54461778	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:54376778-54377122	IMR90	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:54350432-54350482	Hela-S3	cervix:	n/a
2	chr2:54467214-54467264	HRCEpiC	kidney:	n/a
3	chr2:54467214-54467264	SAEC	small airway:	n/a
4	chr2:54467214-54467264	T-47D	breast:	n/a
5	chr2:54467214-54467264	HL-60	blood:	n/a
6	chr2:54350432-54350482	HRPEpiC	eye:	n/a
7	chr2:54350432-54350482	Caco-2	colon:	n/a
8	chr2:54350432-54350482	AG09319	gingival:	n/a
9	chr2:54467214-54467264	HAEpiC	amniotic membrane:	n/a
10	chr2:54467214-54467264	NH-A	brain:	n/a
11	chr2:54350432-54350482	MCF10A-Er-Src	breast:	n/a
12	chr2:54467214-54467264	HEEpiC	esophagus:	n/a
13	chr2:54467214-54467264	SK-N-SH_RA	brain:	n/a
14	chr2:54350432-54350482	AG04449	skin:	fetal
15	chr2:54350432-54350482	T-47D	breast:	n/a
16	chr2:54467214-54467264	RPTEC	kidney:	n/a
17	chr2:54467214-54467264	HUVEC	blood vessel:	n/a
18	chr2:54350432-54350482	PFSK-1	brain:	n/a
19	chr2:54350432-54350482	SK-N-MC	brain:	n/a
20	chr2:54467214-54467264	AG10803	skin:	n/a
21	chr2:54350432-54350482	GM19239	blood:	n/a
22	chr2:54350432-54350482	PrEC	prostate:	n/a
23	chr2:54467214-54467264	AG04450	lung:	fetal
24	chr2:54350432-54350482	GM12892	blood:	n/a
25	chr2:54350432-54350482	HEEpiC	esophagus:	n/a
26	chr2:54467214-54467264	ovcar-3	ovarian:	n/a
27	chr2:54350432-54350482	NH-A	brain:	n/a
28	chr2:54467214-54467264	NHDF-neo	bronchial:	n/a
29	chr2:54467214-54467264	NB4	blood:	n/a
30	chr2:54350432-54350482	GM12891	blood:	n/a
31	chr2:54467214-54467264	Hepatocyte	liver:	n/a
32	chr2:54467214-54467264	BJ	skin:	n/a
33	chr2:54350432-54350482	SK-N-SH	brain:	n/a
34	chr2:54350432-54350482	IMR90	lung:	fetal
35	chr2:54350432-54350482	SK-N-SH_RA	brain:	n/a
36	chr2:54350432-54350482	AG10803	skin:	n/a
37	chr2:54350432-54350482	Hepatocyte	liver:	n/a
38	chr2:54467214-54467264	K562	blood:	n/a
39	chr2:54467214-54467264	ECC-1	luminal epithelium:	n/a
40	chr2:54350432-54350482	K562	blood:	n/a
41	chr2:54350432-54350482	U87	brain:	n/a
42	chr2:54467214-54467264	IMR90	lung:	fetal
43	chr2:54350432-54350482	PANC-1	pancreas:	n/a
44	chr2:54467214-54467264	HPAEpiC	pulmonary alveolar:	n/a
45	chr2:54467214-54467264	NHBE	bronchial:	n/a
46	chr2:54467214-54467264	PFSK-1	brain:	n/a
47	chr2:54350432-54350482	RPTEC	kidney:	n/a
48	chr2:54350432-54350482	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:54350432-54350482	HMEC	breast:	n/a
50	chr2:54467214-54467264	AG04449	skin:	fetal

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
2	chr2:54448522..54450800-chr2:54452364..54454802,2	K562	blood:
3	chr2:54341659..54344698-chr2:54352246..54354996,3	MCF-7	breast:
4	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
5	chr2:54340543..54343083-chr2:54350579..54352338,2	K562	blood:
6	chr2:54430392..54431993-chr2:54432039..54434857,2	MCF-7	breast:
7	chr2:54457083..54460035-chr2:54464183..54466106,2	K562	blood:
8	chr2:54403773..54404429-chr2:54730122..54730843,3	MCF-7	breast:
9	chr2:54342420..54344345-chr2:54367915..54370149,2	MCF-7	breast:
10	chr2:54341229..54346589-chr2:54385136..54390434,5	MCF-7	breast:
11	chr2:54433434..54434357-chr2:54725307..54725819,2	MCF-7	breast:
12	chr2:54341795..54343300-chr2:54353986..54355682,2	K562	blood:
13	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
14	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
15	chr2:54442747..54444548-chr2:54447776..54450231,2	K562	blood:
16	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
17	chr2:54432631..54436865-chr2:54437237..54440391,3	K562	blood:
18	chr2:54433377..54433952-chr2:54730236..54730920,2	MCF-7	breast:
19	chr2:54466633..54468348-chr2:54481012..54483338,2	K562	blood:
20	chr2:54335252..54336789-chr2:54355206..54357354,2	MCF-7	breast:
21	chr2:54448522..54450800-chr2:54452364..54454802,2	K562	blood:
22	chr2:54467638..54470177-chr2:54473564..54475270,3	K562	blood:
23	chr2:54341176..54344555-chr2:54346430..54350020,7	K562	blood:
24	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
25	chr2:54294456..54296366-chr2:54347167..54348766,2	K562	blood:
26	chr2:54341341..54343085-chr2:54376949..54378991,2	MCF-7	breast:
27	chr2:54353860..54357435-chr2:54358249..54361624,3	K562	blood:
28	chr2:54419449..54421848-chr2:54424937..54426802,2	K562	blood:
29	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
30	chr2:54356754..54359012-chr2:54361196..54364127,2	K562	blood:
31	chr2:54343141..54345901-chr2:54421855..54423562,2	K562	blood:
32	chr2:54442747..54444548-chr2:54447776..54450231,2	K562	blood:
33	chr2:54195752..54197966-chr2:54347709..54349839,3	K562	blood:
34	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
35	chr2:54457083..54460035-chr2:54464183..54466106,2	K562	blood:
36	chr2:54348914..54351934-chr2:54354542..54358580,3	K562	blood:
37	chr2:54431810..54434797-chr2:54434888..54436507,2	K562	blood:
38	chr2:54198564..54201435-chr2:54359737..54361960,2	K562	blood:
39	chr2:54465360..54468834-chr2:54480824..54482850,3	K562	blood:
40	chr2:54341216..54345253-chr2:54347980..54351307,5	MCF-7	breast:
41	chr2:54341176..54343229-chr2:54346629..54349067,2	K562	blood:
42	chr2:54352052..54355360-chr2:54358848..54360965,3	K562	blood:
43	chr2:54343136..54344762-chr2:54350422..54352755,2	K562	blood:
44	chr2:54341946..54344648-chr2:54408186..54409910,2	K562	blood:

No data

Variant related genes	Relation type
RNU7-172P	TF binding region
ACYP2	TF binding region
RNU7-172P	CpG island
ACYP2	CpG island
ENSG00000170634	chromatin interactions
ENSG00000068878	chromatin interactions

Extended variants
information (count: 5307 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:5307 , 50 per page) page: 1 2 3 4 5 6 7 ... 107

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544403250	chr2:54345899-54345900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564307312	chr2:54345904-54345905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533702383	chr2:54345941-54345942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140867724	chr2:54345947-54345948	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527929845	chr2:54345967-54345968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560570336	chr2:54346049-54346050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533479396	chr2:54346124-54346125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71408752	chr2:54346188-54346189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111300484	chr2:54346209-54346210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10542497	chr2:54346217-54346218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34381809	chr2:54346220-54346221	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549505090	chr2:54346243-54346244	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569379123	chr2:54346321-54346322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538299633	chr2:54346417-54346418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550809308	chr2:54346419-54346420	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75726099	chr2:54346438-54346439	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs9973583	chr2:54346440-54346441	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144599134	chr2:54346445-54346446	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs368449785	chr2:54346446-54346447	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552976473	chr2:54346530-54346531	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs35347104	chr2:54346562-54346563	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529003573	chr2:54346563-54346564	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572836942	chr2:54346600-54346601	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs189247416	chr2:54346601-54346602	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192107769	chr2:54346647-54346648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147886426	chr2:54346648-54346649	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72906777	chr2:54346673-54346674	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564368221	chr2:54346691-54346692	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs578099168	chr2:54346708-54346709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184288655	chr2:54346713-54346714	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560622988	chr2:54346714-54346715	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs368114700	chr2:54346720-54346721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529547056	chr2:54346725-54346726	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs139887416	chr2:54346756-54346757	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372220606	chr2:54346811-54346812	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562835575	chr2:54346821-54346822	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs369200849	chr2:54346840-54346841	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528167818	chr2:54346844-54346845	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531862202	chr2:54346854-54346855	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551880586	chr2:54346857-54346858	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547930599	chr2:54346882-54346883	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs189473506	chr2:54346902-54346903	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539247411	chr2:54346908-54346909	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546920144	chr2:54346937-54346938	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs180985588	chr2:54346952-54346953	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535699222	chr2:54346996-54346997	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs60973940	chr2:54346998-54346999	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34110148	chr2:54347008-54347009	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs6545386	chr2:54347040-54347041	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs113470216	chr2:54347046-54347047	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1047 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54343200-54347800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:54343200-54347800	Weak transcription	Spleen	Spleen
3	chr2:54343200-54350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:54343400-54347400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:54343400-54347600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:54343400-54347600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:54343400-54347600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:54343400-54347600	Weak transcription	Thymus	Thymus
9	chr2:54343400-54347800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:54343400-54347800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:54343400-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:54343400-54347800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:54343400-54347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:54343400-54347800	Weak transcription	Aorta	Aorta
15	chr2:54343400-54347800	Weak transcription	Colonic Mucosa	Colon
16	chr2:54343400-54347800	Weak transcription	Fetal Brain Female	brain
17	chr2:54343400-54347800	Weak transcription	Gastric	stomach
18	chr2:54343400-54347800	Weak transcription	Lung	lung
19	chr2:54343400-54347800	Weak transcription	Right Ventricle	heart
20	chr2:54343400-54347800	Weak transcription	HSMM	muscle
21	chr2:54343400-54348000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:54343400-54348000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:54343400-54348000	Weak transcription	Right Atrium	heart
24	chr2:54343400-54349000	Weak transcription	HSMMtube	muscle
25	chr2:54343400-54349400	Weak transcription	Psoas Muscle	Psoas
26	chr2:54343400-54349600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr2:54343400-54351000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:54343400-54353000	Weak transcription	Fetal Lung	lung
29	chr2:54343400-54388600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:54343600-54346000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:54343600-54346000	Weak transcription	HUVEC	blood vessel
32	chr2:54343600-54347800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:54343600-54347800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:54343600-54347800	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:54343600-54348000	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:54343600-54348000	Weak transcription	Adipose Nuclei	Adipose
37	chr2:54343600-54348000	Weak transcription	NHLF	lung
38	chr2:54343600-54349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:54343600-54349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:54343600-54350000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr2:54343600-54350600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:54343800-54347800	Weak transcription	Brain Substantia Nigra	brain
43	chr2:54343800-54349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:54343800-54349000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:54343800-54349400	Weak transcription	Fetal Heart	heart
46	chr2:54343800-54355800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:54344000-54346200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr2:54344000-54348000	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr2:54344000-54348000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:54344000-54349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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