Variant report

Variant	nsv597761
Chromosome Location	chr5:30317487-30434848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:30334740-30334775	K562	blood:	n/a	n/a
2	BACH1	chr5:30405560-30405672	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr5:30337300-30337674	GM12878	blood:	n/a	n/a
4	BHLHE40	chr5:30337301-30337609	HepG2	liver:	n/a	n/a
5	CEBPB	chr5:30324366-30324430	H1-hESC	embryonic stem cell:	n/a	n/a
6	CEBPB	chr5:30326792-30327081	MCF-7	breast:	n/a	n/a
7	CEBPB	chr5:30356521-30356732	A549	lung:	n/a	chr5:30356586-30356597
8	CEBPB	chr5:30336225-30336401	HepG2	liver:	n/a	n/a
9	CEBPB	chr5:30326920-30327209	MCF-7	breast:	n/a	n/a
10	CEBPB	chr5:30392803-30392994	A549	lung:	n/a	n/a
11	CEBPB	chr5:30356493-30356736	HepG2	liver:	n/a	chr5:30356586-30356597
12	CTCF	chr5:30386215-30386224	GM13976	blood:	n/a	n/a
13	CTCF	chr5:30324320-30324470	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr5:30413700-30413850	AoAF	blood vessel:	n/a	n/a
15	CTCF	chr5:30401711-30401860	Fibrobl	skin:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
16	CTCF	chr5:30401736-30401845	MCF-7	breast:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
17	CTCF	chr5:30401720-30401870	HRE	kidney:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
18	CTCF	chr5:30324280-30324473	MCF-7	breast:	n/a	n/a
19	CTCF	chr5:30401780-30401930	GM12872	blood:	n/a	chr5:30401781-30401794
20	CTCF	chr5:30401720-30401870	HFF	foreskin:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
21	CTCF	chr5:30401680-30401830	AG09319	gingival:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
22	CTCF	chr5:30401740-30401890	MCF-7	breast:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
23	CTCF	chr5:30401483-30402177	SK-N-SH	brain:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
24	CTCF	chr5:30401700-30401850	GM12864	blood:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
25	CTCF	chr5:30401700-30401850	HBMEC	blood vessel:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
26	CTCF	chr5:30401686-30401882	NHEK	skin:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
27	CTCF	chr5:30324203-30324488	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr5:30324280-30324430	Caco-2	colon:	n/a	n/a
29	CTCF	chr5:30401720-30401870	GM06990	blood:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
30	CTCF	chr5:30401760-30401910	HMF	breast:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
31	CTCF	chr5:30401700-30401850	GM12871	blood:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
32	CTCF	chr5:30401740-30401890	GM12865	blood:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
33	CTCF	chr5:30413700-30413850	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr5:30401560-30401977	IMR90	lung:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
35	CTCF	chr5:30401720-30401870	A549	lung:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
36	CTCF	chr5:30324280-30324430	HEK293	kidney:	n/a	n/a
37	CTCF	chr5:30401628-30401940	H1-hESC	embryonic stem cell:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
38	CTCF	chr5:30324260-30324410	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr5:30401572-30401977	GM12878	blood:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
40	CTCF	chr5:30401685-30401868	K562	blood:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
41	CTCF	chr5:30413673-30413970	GM12878	blood:	n/a	chr5:30413835-30413853 chr5:30413837-30413858
42	CTCF	chr5:30413779-30413923	LNCaP	prostate:	n/a	chr5:30413835-30413853 chr5:30413837-30413858
43	CTCF	chr5:30401660-30401810	HEEpiC	esophagus:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
44	CTCF	chr5:30401720-30401870	RPTEC	kidney:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
45	CTCF	chr5:30413720-30413870	AoAF	blood vessel:	n/a	chr5:30413835-30413853 chr5:30413837-30413858
46	CTCF	chr5:30401740-30401890	HA-sp	spinal cord:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
47	CTCF	chr5:30401680-30401830	Hela-S3	cervix:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
48	CTCF	chr5:30401680-30401830	AG09309	skin:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
49	CTCF	chr5:30401680-30401830	AG04450	lung:	n/a	chr5:30401778-30401796 chr5:30401781-30401794
50	CTCF	chr5:30413820-30413970	BE2_C	brain:	n/a	chr5:30413835-30413853 chr5:30413837-30413858

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:30346809-30346859	Jurkat	blood:	n/a
2	chr5:30346809-30346859	HCPEpiC	choroid plexus:	n/a
3	chr5:30429433-30429483	SK-N-SH	brain:	n/a
4	chr5:30346020-30346070	SAEC	small airway:	n/a
5	chr5:30429433-30429483	HepG2	liver:	n/a
6	chr5:30429329-30429379	SK-N-SH_RA	brain:	n/a
7	chr5:30346809-30346859	NHDF-neo	bronchial:	n/a
8	chr5:30346164-30346214	HCT-116	colon:	n/a
9	chr5:30429329-30429379	AoSMC	blood vessel:	n/a
10	chr5:30390070-30390120	T-47D	breast:	n/a
11	chr5:30390070-30390120	AoSMC	blood vessel:	n/a
12	chr5:30346809-30346859	Hepatocyte	liver:	n/a
13	chr5:30346164-30346214	BE2_C	brain:	n/a
14	chr5:30429329-30429379	SK-N-MC	brain:	n/a
15	chr5:30429433-30429483	BJ	skin:	n/a
16	chr5:30429329-30429379	SAEC	small airway:	n/a
17	chr5:30390070-30390120	HMEC	breast:	n/a
18	chr5:30429433-30429483	Jurkat	blood:	n/a
19	chr5:30429329-30429379	HIPEpiC	eye:	n/a
20	chr5:30429329-30429379	BJ	skin:	n/a
21	chr5:30429433-30429483	HUVEC	blood vessel:	n/a
22	chr5:30346164-30346214	LNCaP	prostate:	n/a
23	chr5:30346020-30346070	HEEpiC	esophagus:	n/a
24	chr5:30429329-30429379	ovcar-3	ovarian:	n/a
25	chr5:30429329-30429379	HEEpiC	esophagus:	n/a
26	chr5:30429433-30429483	PANC-1	pancreas:	n/a
27	chr5:30390070-30390120	Hepatocyte	liver:	n/a
28	chr5:30429433-30429483	HAEpiC	amniotic membrane:	n/a
29	chr5:30346164-30346214	U87	brain:	n/a
30	chr5:30429433-30429483	SKMC	muscle:	n/a
31	chr5:30346809-30346859	HIPEpiC	eye:	n/a
32	chr5:30346020-30346070	SKMC	muscle:	n/a
33	chr5:30346809-30346859	HNPCEpiC	eye:	n/a
34	chr5:30346164-30346214	HUVEC	blood vessel:	n/a
35	chr5:30346020-30346070	SK-N-SH	brain:	n/a
36	chr5:30429329-30429379	A549	lung:	n/a
37	chr5:30346809-30346859	IMR90	lung:	fetal
38	chr5:30346164-30346214	HEEpiC	esophagus:	n/a
39	chr5:30346164-30346214	GM19239	blood:	n/a
40	chr5:30390070-30390120	PANC-1	pancreas:	n/a
41	chr5:30429433-30429483	HRE	kidney:	n/a
42	chr5:30429329-30429379	IMR90	lung:	fetal
43	chr5:30429329-30429379	PrEC	prostate:	n/a
44	chr5:30346809-30346859	Hela-S3	cervix:	n/a
45	chr5:30346020-30346070	HUVEC	blood vessel:	n/a
46	chr5:30390070-30390120	HCPEpiC	choroid plexus:	n/a
47	chr5:30429433-30429483	HEK293	kidney:	embryo
48	chr5:30346809-30346859	Caco-2	colon:	n/a
49	chr5:30346809-30346859	SK-N-SH_RA	brain:	n/a
50	chr5:30429433-30429483	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:30401497..30402171-chr5:31186491..31187231,2	MCF-7	breast:
2	chr5:30352726..30354416-chr5:30354463..30356083,2	MCF-7	breast:
3	chr5:30411663..30414613-chr5:30418173..30421082,2	MCF-7	breast:
4	chr5:30335608..30338399-chr5:30338549..30341547,3	MCF-7	breast:
5	chr5:30385785..30388014-chr5:30430823..30433281,2	K562	blood:
6	chr5:30385785..30388014-chr5:30430823..30433281,2	K562	blood:
7	chr5:30352726..30354416-chr5:30354463..30356083,2	MCF-7	breast:
8	chr5:30401282..30402426-chr5:31231996..31233048,6	MCF-7	breast:
9	chr5:30040588..30041199-chr5:30401364..30401866,2	MCF-7	breast:
10	chr5:30335608..30338399-chr5:30338549..30341547,3	MCF-7	breast:
11	chr5:30348749..30351521-chr5:30376148..30377890,2	K562	blood:
12	chr5:30411663..30414613-chr5:30418173..30421082,2	MCF-7	breast:
13	chr5:30306752..30308851-chr5:30323163..30325456,2	MCF-7	breast:
14	chr5:30329682..30331741-chr5:30336346..30338195,2	MCF-7	breast:
15	chr5:30329682..30331741-chr5:30336346..30338195,2	MCF-7	breast:
16	chr5:30348749..30351521-chr5:30376148..30377890,2	K562	blood:

Variant related genes	Relation type
ENSG00000250118	TF binding region
ENSG00000250118	CpG island

Extended variants
information (count: 940 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:940 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191364527	chr5:30337433-30337434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs80007431	chr5:30337439-30337440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201372367	chr5:30337453-30337454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182688642	chr5:30337458-30337459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529770811	chr5:30337476-30337477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200330978	chr5:30337477-30337478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566037249	chr5:30337480-30337481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549910192	chr5:30337485-30337486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533756165	chr5:30337488-30337489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187961292	chr5:30337489-30337490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569754239	chr5:30337509-30337510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370868137	chr5:30337510-30337511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs60270562	chr5:30337526-30337527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533873288	chr5:30337530-30337531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139352826	chr5:30337599-30337600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373512742	chr5:30345615-30345616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546396089	chr5:30345642-30345643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190284930	chr5:30345658-30345659	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528813872	chr5:30345667-30345668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541008235	chr5:30345681-30345682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181489979	chr5:30345687-30345688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560913913	chr5:30345695-30345696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142953228	chr5:30345747-30345748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372478712	chr5:30346009-30346010	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35903271	chr5:30346011-30346012	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186737561	chr5:30346019-30346020	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537048654	chr5:30346021-30346022	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs375124517	chr5:30346093-30346094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190197136	chr5:30346140-30346141	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs4867265	chr5:30346191-30346192	Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577280987	chr5:30346236-30346237	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs546062363	chr5:30346249-30346250	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs140450088	chr5:30346291-30346292	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs145543682	chr5:30346312-30346313	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs73074604	chr5:30346330-30346331	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs553561933	chr5:30346353-30346354	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs578076769	chr5:30366101-30366102	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188631678	chr5:30366108-30366109	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs540465651	chr5:30366129-30366130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs181005996	chr5:30366131-30366132	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs6892741	chr5:30366175-30366176	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542888672	chr5:30366191-30366192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs185984520	chr5:30366221-30366222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546268220	chr5:30366230-30366231	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369389573	chr5:30366250-30366251	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs78783551	chr5:30366424-30366425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558177909	chr5:30366451-30366452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144637354	chr5:30366490-30366491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534256851	chr5:30366544-30366545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567652941	chr5:30366559-30366560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:30337400-30337600	Enhancers	Pancreas	Pancrea
2	chr5:30345600-30345800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:30346000-30346400	Active TSS	H1 Cell Line	embryonic stem cell
4	chr5:30346000-30346400	Active TSS	Cortex derived primary cultured neurospheres	brain
5	chr5:30346000-30346400	Active TSS	HSMM	muscle
6	chr5:30346000-30346400	Active TSS	NHEK	skin
7	chr5:30366400-30378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:30373200-30373600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:30373600-30376400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:30376400-30376800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:30380400-30380800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr5:30383800-30384400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:30384000-30384600	Enhancers	Brain Germinal Matrix	brain
14	chr5:30387400-30387600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:30387600-30387800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:30387600-30388000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr5:30387600-30388200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:30387600-30388600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:30387800-30388200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:30387800-30389200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:30387800-30390200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr5:30388000-30388200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:30388000-30388600	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr5:30388200-30388600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:30388200-30388600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr5:30388200-30388800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr5:30388600-30388800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:30388600-30389000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr5:30388600-30389000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr5:30388600-30389400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr5:30388600-30391200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr5:30388800-30390000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:30388800-30390200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:30389000-30389200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr5:30389000-30390000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:30389200-30390200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:30389200-30390600	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:30389200-30391200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:30389600-30389800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:30390000-30390400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr5:30390000-30390600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:30390000-30390600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr5:30390200-30390400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr5:30390200-30390600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr5:30390200-30390600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:30390200-30390600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:30390200-30390600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr5:30390200-30390600	Enhancers	NHEK	skin
49	chr5:30390200-30390800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:30391200-30391600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links