Variant report

Variant	nsv1051684
Chromosome Location	chr14:63752916-63867677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:989)
CpG islands
(count:490)
Chromatin interactive
region (count:34)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:989 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:63762661-63763221	GM12878	blood:	n/a	n/a
2	ATF2	chr14:63850463-63850949	GM12878	blood:	n/a	n/a
3	BACH1	chr14:63855832-63855875	K562	blood:	n/a	n/a
4	BATF	chr14:63865499-63865864	GM12878	blood:	n/a	chr14:63865706-63865717
5	BATF	chr14:63755626-63755883	GM12878	blood:	n/a	n/a
6	BATF	chr14:63850478-63850694	GM12878	blood:	n/a	n/a
7	BATF	chr14:63865575-63865812	GM12878	blood:	n/a	chr14:63865706-63865717
8	BATF	chr14:63837832-63838034	GM12878	blood:	n/a	n/a
9	BATF	chr14:63837850-63838032	GM12878	blood:	n/a	n/a
10	BATF	chr14:63762637-63763050	GM12878	blood:	n/a	chr14:63762839-63762850
11	BATF	chr14:63762679-63763006	GM12878	blood:	n/a	chr14:63762839-63762850
12	BCL3	chr14:63829154-63829566	GM12878	blood:	n/a	n/a
13	BCL3	chr14:63827695-63827949	GM12878	blood:	n/a	n/a
14	BCL3	chr14:63829151-63829554	GM12878	blood:	n/a	n/a
15	BCL3	chr14:63762646-63763379	GM12878	blood:	n/a	n/a
16	BRCA1	chr14:63782321-63782360	GM12878	blood:	n/a	n/a
17	BRCA1	chr14:63765282-63765300	GM12878	blood:	n/a	n/a
18	BRCA1	chr14:63855463-63855787	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr14:63842544-63842804	MCF-7	breast:	n/a	chr14:63842637-63842648 chr14:63842657-63842668
20	CEBPB	chr14:63782893-63783093	A549	lung:	n/a	n/a
21	CEBPB	chr14:63834999-63835300	A549	lung:	n/a	chr14:63835165-63835176
22	CEBPB	chr14:63842579-63842902	K562	blood:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
23	CEBPB	chr14:63842517-63842730	A549	lung:	n/a	chr14:63842637-63842648 chr14:63842657-63842668
24	CEBPB	chr14:63809186-63809476	A549	lung:	n/a	n/a
25	CEBPB	chr14:63846009-63846069	HepG2	liver:	n/a	chr14:63846045-63846056
26	CEBPB	chr14:63835079-63835317	HepG2	liver:	n/a	chr14:63835165-63835176
27	CEBPB	chr14:63798372-63798717	A549	lung:	n/a	n/a
28	CEBPB	chr14:63835034-63835323	IMR90	lung:	n/a	chr14:63835165-63835176
29	CEBPB	chr14:63845972-63846129	MCF-7	breast:	n/a	chr14:63846045-63846056
30	CEBPB	chr14:63754737-63754937	HepG2	liver:	n/a	n/a
31	CEBPB	chr14:63842470-63842926	A549	lung:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
32	CEBPB	chr14:63820978-63821201	HepG2	liver:	n/a	chr14:63821071-63821082
33	CEBPB	chr14:63798468-63798578	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr14:63842462-63842947	A549	lung:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
35	CEBPB	chr14:63842418-63842898	MCF-7	breast:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
36	CEBPB	chr14:63842433-63843010	Hela-S3	cervix:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
37	CEBPB	chr14:63774427-63774613	IMR90	lung:	n/a	n/a
38	CEBPB	chr14:63798489-63798718	HepG2	liver:	n/a	n/a
39	CEBPB	chr14:63842444-63843021	IMR90	lung:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
40	CEBPB	chr14:63798403-63798684	IMR90	lung:	n/a	n/a
41	CEBPB	chr14:63842540-63842810	H1-hESC	embryonic stem cell:	n/a	chr14:63842637-63842648 chr14:63842657-63842668
42	CEBPB	chr14:63842449-63843004	HepG2	liver:	n/a	chr14:63842637-63842648 chr14:63842657-63842668 chr14:63842871-63842882
43	CEBPB	chr14:63826972-63827278	HepG2	liver:	n/a	n/a
44	CEBPB	chr14:63842570-63842689	HepG2	liver:	n/a	chr14:63842637-63842648 chr14:63842657-63842668
45	CEBPB	chr14:63835037-63835278	K562	blood:	n/a	chr14:63835165-63835176
46	CEBPB	chr14:63809144-63809428	HepG2	liver:	n/a	n/a
47	CEBPB	chr14:63790310-63790386	HepG2	liver:	n/a	n/a
48	CHD2	chr14:63842557-63842804	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr14:63855550-63855774	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr14:63755004-63755028	GM12878	blood:	n/a	n/a

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:63779694-63779744	HCPEpiC	choroid plexus:	n/a
2	chr14:63784574-63784624	BE2_C	brain:	n/a
3	chr14:63779694-63779744	HCPEpiC	choroid plexus:	n/a
4	chr14:63784574-63784624	BE2_C	brain:	n/a
5	chr14:63781994-63782044	Caco-2	colon:	n/a
6	chr14:63785523-63785573	BE2_C	brain:	n/a
7	chr14:63784394-63784444	Jurkat	blood:	n/a
8	chr14:63784574-63784624	HEEpiC	esophagus:	n/a
9	chr14:63784394-63784444	AG04450	lung:	fetal
10	chr14:63785287-63785337	HCT-116	colon:	n/a
11	chr14:63779694-63779744	IMR90	lung:	fetal
12	chr14:63784574-63784624	AG10803	skin:	n/a
13	chr14:63785334-63785384	K562	blood:	n/a
14	chr14:63784394-63784444	K562	blood:	n/a
15	chr14:63785287-63785337	HCF	heart:	n/a
16	chr14:63779694-63779744	MCF-7	breast:	n/a
17	chr14:63785287-63785337	ovcar-3	ovarian:	n/a
18	chr14:63779694-63779744	NB4	blood:	n/a
19	chr14:63757917-63757967	AG04450	lung:	fetal
20	chr14:63781994-63782044	MCF-7	breast:	n/a
21	chr14:63784394-63784444	MCF10A-Er-Src	breast:	n/a
22	chr14:63779694-63779744	GM06990	blood:	n/a
23	chr14:63785287-63785337	SAEC	small airway:	n/a
24	chr14:63757917-63757967	LNCaP	prostate:	n/a
25	chr14:63757917-63757967	GM12891	blood:	n/a
26	chr14:63784394-63784444	PrEC	prostate:	n/a
27	chr14:63785523-63785573	PFSK-1	brain:	n/a
28	chr14:63779694-63779744	SK-N-MC	brain:	n/a
29	chr14:63785287-63785337	AG09319	gingival:	n/a
30	chr14:63784394-63784444	HCM	heart:	n/a
31	chr14:63781994-63782044	HRE	kidney:	n/a
32	chr14:63785334-63785384	HCM	heart:	n/a
33	chr14:63781994-63782044	HCT-116	colon:	n/a
34	chr14:63784394-63784444	AG04449	skin:	fetal
35	chr14:63779694-63779744	SK-N-SH_RA	brain:	n/a
36	chr14:63784394-63784444	SK-N-SH	brain:	n/a
37	chr14:63785287-63785337	AoSMC	blood vessel:	n/a
38	chr14:63785523-63785573	HCPEpiC	choroid plexus:	n/a
39	chr14:63757917-63757967	HepG2	liver:	n/a
40	chr14:63784574-63784624	Caco-2	colon:	n/a
41	chr14:63784394-63784444	GM12892	blood:	n/a
42	chr14:63757917-63757967	HCM	heart:	n/a
43	chr14:63784394-63784444	GM12891	blood:	n/a
44	chr14:63784574-63784624	NHBE	bronchial:	n/a
45	chr14:63757917-63757967	SK-N-SH_RA	brain:	n/a
46	chr14:63784394-63784444	AG10803	skin:	n/a
47	chr14:63784394-63784444	HCF	heart:	n/a
48	chr14:63757917-63757967	HEEpiC	esophagus:	n/a
49	chr14:63784574-63784624	CMK	blood:	n/a
50	chr14:63784394-63784444	HCT-116	colon:	n/a

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:63833848..63836637-chr14:63841701..63844309,2	MCF-7	breast:
2	chr14:63792244..63793991-chr14:63822346..63825319,2	MCF-7	breast:
3	chr14:63836099..63836920-chr6:128541621..128542384,2	MCF-7	breast:
4	chr14:63837297..63838980-chr14:63840657..63842212,2	MCF-7	breast:
5	chr14:63855569..63857925-chr14:64009617..64011888,2	MCF-7	breast:
6	chr14:63823098..63825061-chr14:63826857..63829778,2	MCF-7	breast:
7	chr14:63866982..63869213-chr14:64008832..64010696,2	MCF-7	breast:
8	chr14:63857974..63860690-chr14:63917148..63919988,2	MCF-7	breast:
9	chr14:63816228..63817986-chr14:63819817..63821976,2	MCF-7	breast:
10	chr14:63749402..63752016-chr14:63753123..63755762,3	K562	blood:
11	chr14:62629876..62630378-chr14:63775161..63775717,2	MCF-7	breast:
12	chr14:63830891..63833406-chr14:63833743..63835753,2	K562	blood:
13	chr14:63858881..63861162-chr14:64008688..64011612,2	MCF-7	breast:
14	chr14:63830891..63833406-chr14:63833743..63835753,2	K562	blood:
15	chr14:63807896..63809809-chr14:63818163..63820932,2	MCF-7	breast:
16	chr14:63823098..63825061-chr14:63826857..63829778,2	MCF-7	breast:
17	chr14:63816228..63817986-chr14:63819817..63821976,2	MCF-7	breast:
18	chr14:63749402..63752016-chr14:63753123..63755149,2	K562	blood:
19	chr14:63833848..63836637-chr14:63841701..63844309,2	MCF-7	breast:
20	chr14:63792244..63793991-chr14:63822346..63825319,2	MCF-7	breast:
21	chr14:63807896..63809809-chr14:63818163..63820932,2	MCF-7	breast:
22	chr14:63775157..63776075-chr14:64011101..64011670,2	MCF-7	breast:
23	chr14:63855657..63857190-chr14:63857945..63860225,2	K562	blood:
24	chr14:63641198..63641930-chr14:63775163..63776037,2	MCF-7	breast:
25	chr14:63855376..63856976-chr14:64105685..64108470,2	K562	blood:
26	chr14:63855793..63857430-chr14:63857511..63859200,2	MCF-7	breast:
27	chr14:62629724..62631701-chr14:63774617..63777066,2	MCF-7	breast:
28	chr14:63837297..63838980-chr14:63840657..63842212,2	MCF-7	breast:
29	chr14:63855657..63857190-chr14:63857945..63860225,2	K562	blood:
30	chr14:63784531..63787249-chr14:63793902..63795892,2	MCF-7	breast:
31	chr14:63848595..63851169-chr14:64107183..64109145,2	K562	blood:
32	chr14:63855385..63856181-chr14:64010817..64012064,6	MCF-7	breast:
33	chr14:63855376..63858099-chr14:64105447..64108157,3	K562	blood:
34	chr14:63855793..63857430-chr14:63857511..63859200,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R5E-2	chr14:63764844-63765498	ENSG00000258943
2	lnc-PPP2R5E-2	chr14:63766041-63766265	ENSG00000258943

No data

Variant related genes	Relation type
ENSG00000258943	TF binding region
GPHB5	TF binding region
ENSG00000258943	CpG island
GPHB5	CpG island
ENSG00000154001	chromatin interactions
ENSG00000261242	chromatin interactions
ENSG00000140006	chromatin interactions
ENSG00000179600	chromatin interactions

Extended variants
information (count: 3530 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3530 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8006388	chr14:63752944-63752945	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565032652	chr14:63752946-63752947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs549300557	chr14:63753040-63753041	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs190080919	chr14:63753065-63753066	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs9989155	chr14:63753078-63753079	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182729408	chr14:63753088-63753089	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs145658269	chr14:63753164-63753165	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs111782073	chr14:63753180-63753181	Weak transcription Enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs568993179	chr14:63753252-63753253	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538023565	chr14:63753253-63753254	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140321915	chr14:63753256-63753257	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190934828	chr14:63753261-63753262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555296644	chr14:63753275-63753276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111953390	chr14:63753282-63753283	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553823716	chr14:63753322-63753323	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573544995	chr14:63753327-63753328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10145908	chr14:63753329-63753330	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112760885	chr14:63753390-63753391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576603345	chr14:63753397-63753398	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146439307	chr14:63753433-63753434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565099116	chr14:63753474-63753475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs17100979	chr14:63753514-63753515	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140910468	chr14:63753542-63753543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541100142	chr14:63753566-63753567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59606601	chr14:63753630-63753631	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182699050	chr14:63753631-63753632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561249719	chr14:63753656-63753657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566302201	chr14:63753700-63753701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189009567	chr14:63753722-63753723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374594699	chr14:63753751-63753752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193102416	chr14:63753752-63753753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551605407	chr14:63753756-63753757	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184206426	chr14:63753795-63753796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576162104	chr14:63753814-63753815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17100980	chr14:63753844-63753845	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs547498053	chr14:63753852-63753853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187439977	chr14:63753880-63753881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148193515	chr14:63753927-63753928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536238663	chr14:63753973-63753974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs534161793	chr14:63753981-63753982	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs74061925	chr14:63753983-63753984	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs538902528	chr14:63754014-63754015	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558750206	chr14:63754022-63754023	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572273774	chr14:63754030-63754031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541163127	chr14:63754040-63754041	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561413940	chr14:63754092-63754093	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574787422	chr14:63754182-63754183	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191576804	chr14:63754200-63754201	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140123647	chr14:63754234-63754235	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563487413	chr14:63754303-63754304	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	22543975	CNVD
small cell lung cancer	17426248	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1349 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
2	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:63730800-63766000	Weak transcription	Spleen	Spleen
4	chr14:63737200-63755400	Weak transcription	Fetal Intestine Large	intestine
5	chr14:63738000-63757800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr14:63739400-63759400	Weak transcription	Fetal Intestine Small	intestine
7	chr14:63740800-63755400	Weak transcription	Psoas Muscle	Psoas
8	chr14:63740800-63762800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:63740800-63768000	Weak transcription	Right Ventricle	heart
10	chr14:63741000-63757600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:63744000-63755400	Weak transcription	HMEC	breast
12	chr14:63744000-63757600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:63744000-63761800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:63747000-63757600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr14:63747000-63761200	Strong transcription	NH-A	brain
16	chr14:63747400-63760200	Strong transcription	HUVEC	blood vessel
17	chr14:63750400-63755800	Strong transcription	Left Ventricle	heart
18	chr14:63750600-63756600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr14:63750600-63757600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:63750800-63753000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:63750800-63757400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:63751000-63753600	Strong transcription	Fetal Muscle Leg	muscle
23	chr14:63751400-63754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:63751400-63762200	Weak transcription	Right Atrium	heart
25	chr14:63751600-63762400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:63752000-63753200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr14:63752000-63753800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr14:63752000-63757600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:63752000-63761600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:63752000-63762000	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:63752200-63753400	Strong transcription	Fetal Stomach	stomach
32	chr14:63752200-63755800	Weak transcription	GM12878-XiMat	blood
33	chr14:63752200-63756400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr14:63752200-63760600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr14:63752200-63762000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:63752400-63755200	Strong transcription	Ovary	ovary
37	chr14:63752400-63760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:63752400-63760800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:63752600-63753000	Enhancers	Pancreas	Pancrea
40	chr14:63752600-63753200	Enhancers	H9 Cell Line	embryonic stem cell
41	chr14:63752800-63753000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr14:63752800-63753000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr14:63752800-63753000	ZNF genes & repeats	Lung	lung
44	chr14:63752800-63753200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr14:63752800-63753200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:63752800-63753200	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr14:63752800-63753200	Enhancers	Liver	Liver
48	chr14:63752800-63753200	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
49	chr14:63752800-63753400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:63752800-63755400	Strong transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links