Variant report

Variant	nsv916205
Chromosome Location	chr14:67078849-67351687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1370)
CpG islands
(count:61)
Chromatin interactive
region (count:41)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1370 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:67224984-67225061	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:67213116-67213393	K562	blood:	n/a	n/a
3	ARID3A	chr14:67091021-67091430	HepG2	liver:	n/a	n/a
4	ATF2	chr14:67116096-67116807	GM12878	blood:	n/a	n/a
5	ATF2	chr14:67218740-67219290	GM12878	blood:	n/a	n/a
6	ATF2	chr14:67116077-67116922	GM12878	blood:	n/a	n/a
7	ATF2	chr14:67117111-67117794	GM12878	blood:	n/a	n/a
8	ATF2	chr14:67218758-67219207	GM12878	blood:	n/a	n/a
9	ATF2	chr14:67117239-67117647	GM12878	blood:	n/a	n/a
10	BACH1	chr14:67119428-67119712	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr14:67305949-67305970	K562	blood:	n/a	n/a
12	BATF	chr14:67116154-67116829	GM12878	blood:	n/a	chr14:67116456-67116467
13	BATF	chr14:67218778-67219263	GM12878	blood:	n/a	n/a
14	BATF	chr14:67116255-67116675	GM12878	blood:	n/a	chr14:67116456-67116467
15	BATF	chr14:67218719-67219305	GM12878	blood:	n/a	n/a
16	BATF	chr14:67117290-67117681	GM12878	blood:	n/a	n/a
17	BATF	chr14:67117185-67117684	GM12878	blood:	n/a	n/a
18	BCL11A	chr14:67219021-67219287	GM12878	blood:	n/a	n/a
19	BCL11A	chr14:67116318-67116671	GM12878	blood:	n/a	n/a
20	BCL11A	chr14:67117264-67117683	GM12878	blood:	n/a	n/a
21	BCL11A	chr14:67116200-67116728	GM12878	blood:	n/a	n/a
22	BCL11A	chr14:67117318-67117695	GM12878	blood:	n/a	n/a
23	BCL11A	chr14:67218813-67219271	GM12878	blood:	n/a	n/a
24	BCLAF1	chr14:67091013-67091450	GM12878	blood:	n/a	n/a
25	BCLAF1	chr14:67116140-67116764	GM12878	blood:	n/a	n/a
26	BCLAF1	chr14:67116159-67116686	GM12878	blood:	n/a	n/a
27	BCLAF1	chr14:67117133-67117735	GM12878	blood:	n/a	n/a
28	BCLAF1	chr14:67091133-67091461	GM12878	blood:	n/a	n/a
29	BHLHE40	chr14:67116253-67116731	GM12878	blood:	n/a	n/a
30	BHLHE40	chr14:67218905-67219220	GM12878	blood:	n/a	n/a
31	BHLHE40	chr14:67117398-67117639	GM12878	blood:	n/a	n/a
32	BHLHE40	chr14:67091063-67091331	GM12878	blood:	n/a	n/a
33	BRCA1	chr14:67288110-67288222	Hela-S3	cervix:	n/a	n/a
34	BRCA1	chr14:67202769-67202812	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr14:67198693-67198850	K562	blood:	n/a	n/a
36	CEBPB	chr14:67290364-67290658	IMR90	lung:	n/a	n/a
37	CEBPB	chr14:67258805-67259057	HepG2	liver:	n/a	n/a
38	CEBPB	chr14:67237101-67237436	K562	blood:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
39	CEBPB	chr14:67280292-67280682	HepG2	liver:	n/a	chr14:67280486-67280497
40	CEBPB	chr14:67116134-67117834	GM12878	blood:	n/a	n/a
41	CEBPB	chr14:67280274-67280662	A549	lung:	n/a	chr14:67280486-67280497
42	CEBPB	chr14:67280298-67280687	IMR90	lung:	n/a	chr14:67280486-67280497
43	CEBPB	chr14:67176164-67176408	A549	lung:	n/a	n/a
44	CEBPB	chr14:67326090-67326343	HepG2	liver:	n/a	n/a
45	CEBPB	chr14:67280194-67280806	MCF-7	breast:	n/a	chr14:67280486-67280497
46	CEBPB	chr14:67326212-67326326	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr14:67237139-67237466	IMR90	lung:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
48	CEBPB	chr14:67237118-67237434	Hela-S3	cervix:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285
49	CEBPB	chr14:67280360-67280549	HepG2	liver:	n/a	chr14:67280486-67280497
50	CEBPB	chr14:67237108-67237444	HepG2	liver:	n/a	chr14:67237274-67237283 chr14:67237273-67237284 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237274-67237283 chr14:67237272-67237285 chr14:67237272-67237285

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:67292488-67292538	AG04449	skin:	fetal
2	chr14:67292488-67292538	NT2-D1	testis:	n/a
3	chr14:67292488-67292538	HRCEpiC	kidney:	n/a
4	chr14:67292488-67292538	HCM	heart:	n/a
5	chr14:67292488-67292538	HRE	kidney:	n/a
6	chr14:67292488-67292538	HNPCEpiC	eye:	n/a
7	chr14:67292488-67292538	GM06990	blood:	n/a
8	chr14:67292488-67292538	HUVEC	blood vessel:	n/a
9	chr14:67292488-67292538	AoSMC	blood vessel:	n/a
10	chr14:67292488-67292538	HepG2	liver:	n/a
11	chr14:67292488-67292538	HCT-116	colon:	n/a
12	chr14:67292488-67292538	GM12891	blood:	n/a
13	chr14:67292488-67292538	PrEC	prostate:	n/a
14	chr14:67292488-67292538	BE2_C	brain:	n/a
15	chr14:67292488-67292538	Jurkat	blood:	n/a
16	chr14:67292488-67292538	IMR90	lung:	fetal
17	chr14:67292488-67292538	ECC-1	luminal epithelium:	n/a
18	chr14:67292488-67292538	HCPEpiC	choroid plexus:	n/a
19	chr14:67292488-67292538	RPTEC	kidney:	n/a
20	chr14:67292488-67292538	HEK293	kidney:	embryo
21	chr14:67292488-67292538	U87	brain:	n/a
22	chr14:67292488-67292538	K562	blood:	n/a
23	chr14:67292488-67292538	LNCaP	prostate:	n/a
24	chr14:67292488-67292538	ProgFib	skin:	n/a
25	chr14:67292488-67292538	NH-A	brain:	n/a
26	chr14:67292488-67292538	A549	lung:	n/a
27	chr14:67292488-67292538	AG04450	lung:	fetal
28	chr14:67292488-67292538	MCF-7	breast:	n/a
29	chr14:67292488-67292538	Hepatocyte	liver:	n/a
30	chr14:67292488-67292538	PANC-1	pancreas:	n/a
31	chr14:67292488-67292538	Caco-2	colon:	n/a
32	chr14:67292488-67292538	SK-N-SH	brain:	n/a
33	chr14:67292488-67292538	AG09319	gingival:	n/a
34	chr14:67292488-67292538	HIPEpiC	eye:	n/a
35	chr14:67292488-67292538	GM12878	blood:	n/a
36	chr14:67292488-67292538	T-47D	breast:	n/a
37	chr14:67292488-67292538	Hela-S3	cervix:	n/a
38	chr14:67292488-67292538	HRPEpiC	eye:	n/a
39	chr14:67292488-67292538	NHDF-neo	bronchial:	n/a
40	chr14:67292488-67292538	HL-60	blood:	n/a
41	chr14:67292488-67292538	GM12892	blood:	n/a
42	chr14:67292488-67292538	BJ	skin:	n/a
43	chr14:67292488-67292538	AG09309	skin:	n/a
44	chr14:67292488-67292538	AG10803	skin:	n/a
45	chr14:67292488-67292538	SKMC	muscle:	n/a
46	chr14:67292488-67292538	HAEpiC	amniotic membrane:	n/a
47	chr14:67292488-67292538	SAEC	small airway:	n/a
48	chr14:67292488-67292538	NHBE	bronchial:	n/a
49	chr14:67292488-67292538	ovcar-3	ovarian:	n/a
50	chr14:67292488-67292538	CMK	blood:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67090929..67091438-chr14:67585122..67585749,2	MCF-7	breast:
2	chr14:67249480..67250181-chr17:59494053..59494794,2	MCF-7	breast:
3	chr14:66868171..66869202-chr14:67212732..67213746,3	MCF-7	breast:
4	chr14:67273370..67275073-chr14:67291638..67294473,2	K562	blood:
5	chr14:67292902..67294544-chr14:67295956..67298374,2	MCF-7	breast:
6	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
7	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
8	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
9	chr14:67247462..67249948-chr14:67251250..67254048,2	MCF-7	breast:
10	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
11	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
12	chr14:66974755..66976344-chr14:67079161..67081755,2	MCF-7	breast:
13	chr14:67092344..67095051-chr14:67583275..67586009,2	MCF-7	breast:
14	chr14:67094105..67096992-chr14:67100475..67102216,2	MCF-7	breast:
15	chr14:66974629..66976267-chr14:67206447..67208432,2	MCF-7	breast:
16	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
17	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:
18	chr14:67221145..67223857-chr14:67240535..67242119,2	K562	blood:
19	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
20	chr14:67070723..67074270-chr14:67075283..67078895,3	MCF-7	breast:
21	chr14:67247462..67249948-chr14:67251250..67254048,2	MCF-7	breast:
22	chr14:67310130..67311981-chr14:67312589..67315388,2	MCF-7	breast:
23	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
24	chr14:67154703..67157341-chr14:67158405..67161202,2	MCF-7	breast:
25	chr14:67091167..67092058-chr14:67129135..67130325,3	MCF-7	breast:
26	chr14:67347067..67349521-chr14:67447070..67449089,2	MCF-7	breast:
27	chr14:67290864..67292814-chr14:67296432..67298009,2	MCF-7	breast:
28	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
29	chr14:67091099..67091710-chr14:67212729..67213799,3	MCF-7	breast:
30	chr14:67297492..67297992-chr6:10786994..10787529,2	MCF-7	breast:
31	chr14:67089010..67091228-chr14:67584048..67586914,2	MCF-7	breast:
32	chr14:66973750..66975677-chr14:67108046..67110117,2	MCF-7	breast:
33	chr14:67145360..67148245-chr14:67155765..67157650,2	MCF-7	breast:
34	chr14:66867904..66868628-chr14:67128968..67129850,2	MCF-7	breast:
35	chr14:67310130..67311981-chr14:67312589..67315388,2	MCF-7	breast:
36	chr14:67090630..67091537-chr14:67128804..67129400,2	MCF-7	breast:
37	chr14:67121584..67124061-chr14:67125684..67127245,2	MCF-7	breast:
38	chr14:67292902..67294544-chr14:67295956..67298374,2	MCF-7	breast:
39	chr14:67096231..67098087-chr14:67103759..67105557,2	MCF-7	breast:
40	chr14:67273370..67275073-chr14:67291638..67294473,2	K562	blood:
41	chr14:67092710..67093625-chr20:56335759..56336366,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM71D-3	chr14:67227250-67227736	NONHSAT037427
2	lnc-ATP6V1D-6	chr14:67184597-67184862	expRegAs_chr14_4324_-
3	lnc-ATP6V1D-5	chr14:67187470-67188083	predAs_ge08_ARG2_2

No data

Variant related genes	Relation type
GPHN	TF binding region
ENSG00000258796	TF binding region
GPHN	CpG island
ENSG00000258796	CpG island
ENSG00000171723	chromatin interactions
ENSG00000258561	chromatin interactions

Extended variants
information (count: 9580 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:9580 , 50 per page) page: 1 2 3 4 5 6 7 ... 192

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542600056	chr14:67078859-67078860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540224886	chr14:67078869-67078870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564898509	chr14:67078937-67078938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149254027	chr14:67078945-67078946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144431822	chr14:67078969-67078970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35061078	chr14:67079038-67079039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148396015	chr14:67079047-67079048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181047541	chr14:67079109-67079110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186040160	chr14:67079119-67079120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533500897	chr14:67079161-67079162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191163665	chr14:67079163-67079164	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183306379	chr14:67079168-67079169	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs369510083	chr14:67079227-67079228	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs535483309	chr14:67079229-67079230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs548923677	chr14:67079244-67079245	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs186354463	chr14:67079318-67079319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537728700	chr14:67079331-67079332	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373559764	chr14:67079345-67079346	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs372725227	chr14:67079357-67079358	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs142466921	chr14:67079377-67079378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147946452	chr14:67079414-67079415	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143629437	chr14:67079423-67079424	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs190710850	chr14:67079432-67079433	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140084992	chr14:67079456-67079457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs573641556	chr14:67079463-67079464	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377348817	chr14:67079477-67079478	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs72726406	chr14:67079520-67079521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs78986414	chr14:67079526-67079527	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111990268	chr14:67079555-67079556	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs183506703	chr14:67079569-67079570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs187996067	chr14:67079570-67079571	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs530292010	chr14:67079591-67079592	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192907636	chr14:67079595-67079596	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs560390971	chr14:67079625-67079626	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79363376	chr14:67079633-67079634	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs529387005	chr14:67079644-67079645	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs369655831	chr14:67079645-67079646	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs548543583	chr14:67079715-67079716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs568898734	chr14:67079728-67079729	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531566267	chr14:67079753-67079754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs147703452	chr14:67079796-67079797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563416756	chr14:67079821-67079822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576815024	chr14:67079835-67079836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571472290	chr14:67079845-67079846	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533758772	chr14:67079858-67079859	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78188908	chr14:67079884-67079885	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs1958001	chr14:67079892-67079893	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs76808167	chr14:67079929-67079930	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs142413105	chr14:67079934-67079935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182735513	chr14:67079955-67079956	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	22495309	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:877 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67069400-67085000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:67079400-67081000	Enhancers	Liver	Liver
3	chr14:67083200-67084200	ZNF genes & repeats	Fetal Intestine Small	intestine
4	chr14:67083800-67084000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr14:67083800-67084000	Weak transcription	Gastric	stomach
6	chr14:67084000-67084200	ZNF genes & repeats	Gastric	stomach
7	chr14:67084000-67084400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:67084000-67090600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:67084200-67085000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
10	chr14:67084200-67086600	Weak transcription	Gastric	stomach
11	chr14:67084400-67084600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:67084400-67093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr14:67085000-67088400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:67086600-67087000	Enhancers	Gastric	stomach
15	chr14:67086600-67087400	Enhancers	HepG2	liver
16	chr14:67086800-67087000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr14:67087000-67087400	Enhancers	Liver	Liver
18	chr14:67087000-67106800	Weak transcription	Gastric	stomach
19	chr14:67087200-67110000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:67087400-67090000	Weak transcription	Liver	Liver
21	chr14:67088400-67089000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:67088400-67089000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
23	chr14:67088400-67091000	Weak transcription	Brain Substantia Nigra	brain
24	chr14:67088800-67089000	Enhancers	Left Ventricle	heart
25	chr14:67088800-67089200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:67089000-67090200	Weak transcription	Left Ventricle	heart
27	chr14:67089200-67090200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:67090000-67090200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:67090000-67091600	Enhancers	Liver	Liver
30	chr14:67090200-67090800	Enhancers	Left Ventricle	heart
31	chr14:67090200-67091200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:67090200-67091200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:67090400-67090800	Enhancers	Right Ventricle	heart
34	chr14:67090400-67091000	Enhancers	Psoas Muscle	Psoas
35	chr14:67090400-67091000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr14:67090400-67091000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr14:67090400-67091600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:67090400-67092800	Enhancers	Colon Smooth Muscle	Colon
39	chr14:67090600-67090800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:67090600-67090800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:67090600-67091200	Enhancers	Rectal Smooth Muscle	rectum
42	chr14:67090600-67091400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:67090600-67091600	Enhancers	Fetal Heart	heart
44	chr14:67090600-67091800	Enhancers	Fetal Lung	lung
45	chr14:67090600-67092000	Enhancers	Adipose Nuclei	Adipose
46	chr14:67090600-67092000	Enhancers	Fetal Muscle Leg	muscle
47	chr14:67090800-67091600	Enhancers	A549	lung
48	chr14:67090800-67095200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:67090800-67101000	Weak transcription	Left Ventricle	heart
50	chr14:67090800-67101200	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links