Variant report

Variant	nsv428820
Chromosome Location	chr5:17604088-17803243
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	BACH1	chr5:17680992-17681026	K562	blood:	n/a	n/a
2	BATF	chr5:17631481-17631659	GM12878	blood:	n/a	n/a
3	BATF	chr5:17632271-17632495	GM12878	blood:	n/a	n/a
4	BATF	chr5:17633076-17633247	GM12878	blood:	n/a	n/a
5	BATF	chr5:17632734-17632883	GM12878	blood:	n/a	n/a
6	BATF	chr5:17633787-17633984	GM12878	blood:	n/a	n/a
7	BATF	chr5:17633718-17634065	GM12878	blood:	n/a	n/a
8	BATF	chr5:17632982-17633256	GM12878	blood:	n/a	n/a
9	BCL11A	chr5:17611537-17611688	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:17632345-17632599	GM12878	blood:	n/a	n/a
11	BCL11A	chr5:17632274-17632459	GM12878	blood:	n/a	n/a
12	BCL11A	chr5:17632681-17633248	GM12878	blood:	n/a	n/a
13	BCL11A	chr5:17632985-17633183	GM12878	blood:	n/a	n/a
14	BCL11A	chr5:17633804-17633992	GM12878	blood:	n/a	n/a
15	BCL11A	chr5:17633698-17634114	GM12878	blood:	n/a	n/a
16	BCL11A	chr5:17633500-17633675	GM12878	blood:	n/a	chr5:17633654-17633663
17	BCL3	chr5:17694847-17695529	A549	lung:	n/a	chr5:17695250-17695259
18	BRCA1	chr5:17604171-17604191	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr5:17691746-17692676	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr5:17694481-17695921	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr5:17619469-17619905	Hela-S3	cervix:	n/a	n/a
22	BRCA1	chr5:17679984-17680257	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr5:17799329-17799583	Hela-S3	cervix:	n/a	chr5:17799437-17799450 chr5:17799437-17799450 chr5:17799439-17799450 chr5:17799437-17799448 chr5:17799437-17799450
24	CEBPB	chr5:17694817-17695648	A549	lung:	n/a	n/a
25	CEBPB	chr5:17729684-17729956	IMR90	lung:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
26	CEBPB	chr5:17729677-17729966	K562	blood:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
27	CEBPB	chr5:17796873-17797201	ECC-1	luminal epithelium:	n/a	chr5:17797005-17797016 chr5:17797053-17797064
28	CEBPB	chr5:17694967-17695479	A549	lung:	n/a	n/a
29	CEBPB	chr5:17676882-17676947	K562	blood:	n/a	chr5:17676912-17676923
30	CEBPB	chr5:17774965-17775215	Hela-S3	cervix:	n/a	chr5:17775069-17775080
31	CEBPB	chr5:17729636-17730012	HepG2	liver:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
32	CEBPB	chr5:17796867-17797248	A549	lung:	n/a	chr5:17797005-17797016 chr5:17797053-17797064
33	CEBPB	chr5:17794936-17795379	IMR90	lung:	n/a	chr5:17794997-17795014 chr5:17795040-17795051
34	CEBPB	chr5:17694987-17695485	MCF-7	breast:	n/a	n/a
35	CEBPB	chr5:17748415-17748592	A549	lung:	n/a	n/a
36	CEBPB	chr5:17667048-17667244	IMR90	lung:	n/a	n/a
37	CEBPB	chr5:17796892-17797241	IMR90	lung:	n/a	chr5:17797005-17797016 chr5:17797053-17797064
38	CEBPB	chr5:17694967-17695397	MCF-7	breast:	n/a	n/a
39	CEBPB	chr5:17799331-17799604	A549	lung:	n/a	chr5:17799437-17799450 chr5:17799437-17799450 chr5:17799439-17799450 chr5:17799437-17799448 chr5:17799437-17799450
40	CEBPB	chr5:17794918-17795393	A549	lung:	n/a	chr5:17794997-17795014 chr5:17795040-17795051
41	CEBPB	chr5:17796889-17797123	K562	blood:	n/a	chr5:17797005-17797016 chr5:17797053-17797064
42	CEBPB	chr5:17799327-17799604	HepG2	liver:	n/a	chr5:17799437-17799450 chr5:17799437-17799450 chr5:17799439-17799450 chr5:17799437-17799448 chr5:17799437-17799450
43	CEBPB	chr5:17694461-17695782	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr5:17635259-17635326	HepG2	liver:	n/a	n/a
45	CEBPB	chr5:17680008-17680237	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
46	CEBPB	chr5:17680006-17680300	IMR90	lung:	n/a	chr5:17680161-17680172
47	CEBPB	chr5:17667008-17667264	A549	lung:	n/a	n/a
48	CEBPB	chr5:17794893-17795434	HepG2	liver:	n/a	chr5:17794997-17795014 chr5:17795040-17795051
49	CEBPB	chr5:17796887-17797246	HepG2	liver:	n/a	chr5:17797005-17797016 chr5:17797053-17797064
50	CEBPB	chr5:17679832-17680634	Hela-S3	cervix:	n/a	chr5:17680161-17680172

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17655356-17655406	NT2-D1	testis:	n/a
2	chr5:17632557-17632607	GM12891	blood:	n/a
3	chr5:17655356-17655406	NT2-D1	testis:	n/a
4	chr5:17632557-17632607	GM12891	blood:	n/a
5	chr5:17670475-17670525	Hela-S3	cervix:	n/a
6	chr5:17632043-17632093	GM06990	blood:	n/a
7	chr5:17655356-17655406	ProgFib	skin:	n/a
8	chr5:17631696-17631746	GM06990	blood:	n/a
9	chr5:17633640-17633690	BE2_C	brain:	n/a
10	chr5:17664567-17664617	AoSMC	blood vessel:	n/a
11	chr5:17634462-17634512	HMEC	breast:	n/a
12	chr5:17631696-17631746	IMR90	lung:	fetal
13	chr5:17664567-17664617	NHDF-neo	bronchial:	n/a
14	chr5:17802512-17802562	BE2_C	brain:	n/a
15	chr5:17670475-17670525	GM12892	blood:	n/a
16	chr5:17632557-17632607	BJ	skin:	n/a
17	chr5:17655356-17655406	HIPEpiC	eye:	n/a
18	chr5:17655356-17655406	BE2_C	brain:	n/a
19	chr5:17633640-17633690	IMR90	lung:	fetal
20	chr5:17670442-17670492	Jurkat	blood:	n/a
21	chr5:17664567-17664617	PrEC	prostate:	n/a
22	chr5:17802512-17802562	AG04450	lung:	fetal
23	chr5:17632536-17632586	LNCaP	prostate:	n/a
24	chr5:17656637-17656687	GM19239	blood:	n/a
25	chr5:17633640-17633690	K562	blood:	n/a
26	chr5:17670442-17670492	Hepatocyte	liver:	n/a
27	chr5:17631696-17631746	Hela-S3	cervix:	n/a
28	chr5:17604867-17604917	CMK	blood:	n/a
29	chr5:17654594-17654644	HNPCEpiC	eye:	n/a
30	chr5:17632043-17632093	NHDF-neo	bronchial:	n/a
31	chr5:17802512-17802562	RPTEC	kidney:	n/a
32	chr5:17632557-17632607	HEK293	kidney:	embryo
33	chr5:17604867-17604917	AG10803	skin:	n/a
34	chr5:17632557-17632607	ECC-1	luminal epithelium:	n/a
35	chr5:17654594-17654644	CMK	blood:	n/a
36	chr5:17656637-17656687	ProgFib	skin:	n/a
37	chr5:17632557-17632607	NB4	blood:	n/a
38	chr5:17632536-17632586	PrEC	prostate:	n/a
39	chr5:17670475-17670525	SK-N-SH_RA	brain:	n/a
40	chr5:17802512-17802562	HCM	heart:	n/a
41	chr5:17634462-17634512	NHBE	bronchial:	n/a
42	chr5:17632536-17632586	Jurkat	blood:	n/a
43	chr5:17664567-17664617	HUVEC	blood vessel:	n/a
44	chr5:17634462-17634512	RPTEC	kidney:	n/a
45	chr5:17634462-17634512	K562	blood:	n/a
46	chr5:17634462-17634512	AG10803	skin:	n/a
47	chr5:17656637-17656687	SAEC	small airway:	n/a
48	chr5:17670442-17670492	HNPCEpiC	eye:	n/a
49	chr5:17655356-17655406	RPTEC	kidney:	n/a
50	chr5:17655356-17655406	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
2	chr5:17632983..17635813-chr5:17637711..17640599,2	K562	blood:
3	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
4	chr5:17635261..17638059-chr5:17641232..17643907,2	MCF-7	breast:
5	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
6	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
7	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
8	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
9	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
10	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
11	chr5:17801716..17804540-chr5:17805229..17807105,2	K562	blood:
12	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
13	chr5:17798564..17800322-chr5:17802790..17805535,2	K562	blood:
14	chr5:17644806..17646667-chr5:17648582..17651312,2	MCF-7	breast:
15	chr5:17217433..17219821-chr5:17690448..17693197,3	MCF-7	breast:
16	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
17	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
18	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BASP1-7	chr5:17684693-17684796	ENSG00000249937
2	lnc-BASP1-7	chr5:17769003-17769093	NONHSAT100665
3	lnc-MYO10-17	chr5:17643071-17643337	NONHSAT100659
4	lnc-BASP1-7	chr5:17684693-17684796	NONHSAT100665
5	lnc-MYO10-19	chr5:17654482-17654752	NONHSAT100661
6	lnc-BASP1-7	chr5:17769003-17769093	ENSG00000249937

Variant related genes	Relation type
ENSG00000248542	TF binding region
ENSG00000249282	TF binding region
ENSG00000248471	TF binding region
ENSG00000269466	TF binding region
ENSG00000271296	TF binding region
ENSG00000250386	TF binding region
ENSG00000250351	TF binding region
ENSG00000250715	TF binding region
ENSG00000249666	TF binding region
ENSG00000249357	TF binding region
ENSG00000249156	TF binding region
ENSG00000248337	TF binding region
ENSG00000248160	TF binding region
ENSG00000250782	TF binding region
ENSG00000249937	TF binding region
ENSG00000248542	CpG island
ENSG00000249282	CpG island
ENSG00000248471	CpG island
ENSG00000269466	CpG island
ENSG00000271296	CpG island
ENSG00000250386	CpG island
ENSG00000250351	CpG island
ENSG00000250715	CpG island
ENSG00000249666	CpG island
ENSG00000249357	CpG island
ENSG00000249156	CpG island
ENSG00000248337	CpG island
ENSG00000248160	CpG island
ENSG00000250782	CpG island
ENSG00000249937	CpG island
ENSG00000250782	chromatin interactions
ENSG00000248542	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000248471	chromatin interactions
ENSG00000176788	chromatin interactions

Extended variants
information (count: 3994 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:3994 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6451944	chr5:17604089-17604090	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs111437686	chr5:17604097-17604098	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs117272975	chr5:17604101-17604102	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs6143075	chr5:17604127-17604128	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs537643223	chr5:17604129-17604130	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs557235146	chr5:17604136-17604137	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs145870929	chr5:17604138-17604139	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs543318538	chr5:17604149-17604150	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs553717757	chr5:17604158-17604159	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs5006166	chr5:17604159-17604160	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs540699683	chr5:17604181-17604182	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs549730814	chr5:17604184-17604185	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs5006173	chr5:17604201-17604202	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs564207173	chr5:17604252-17604253	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs532846265	chr5:17604272-17604273	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs78184997	chr5:17604287-17604288	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs201610662	chr5:17604295-17604296	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs200125715	chr5:17604301-17604302	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs142936120	chr5:17604323-17604324	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs80178442	chr5:17604331-17604332	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs75039751	chr5:17604335-17604336	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs538534418	chr5:17604339-17604340	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs7731478	chr5:17604343-17604344	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs529069115	chr5:17604356-17604357	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs548847541	chr5:17604359-17604360	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs565663517	chr5:17604364-17604365	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs528480841	chr5:17604368-17604369	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs7727723	chr5:17604383-17604384	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs571627814	chr5:17604392-17604393	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs74208455	chr5:17604393-17604394	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs192447999	chr5:17604421-17604422	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs75680507	chr5:17604422-17604423	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs567825359	chr5:17604425-17604426	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs536882088	chr5:17604426-17604427	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs553682576	chr5:17604427-17604428	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs573506084	chr5:17604430-17604431	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs80220778	chr5:17604440-17604441	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs185392655	chr5:17604450-17604451	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs189457468	chr5:17604452-17604453	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs78290957	chr5:17604457-17604458	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs77559993	chr5:17604461-17604462	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs543116650	chr5:17604463-17604464	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs75517914	chr5:17604472-17604473	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs75606077	chr5:17604477-17604478	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs76360797	chr5:17604491-17604492	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs79674676	chr5:17604500-17604501	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs74617429	chr5:17604502-17604503	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs141342690	chr5:17604510-17604511	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs73058872	chr5:17604534-17604535	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs180763186	chr5:17604537-17604538	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	19287141	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17604200-17604600	Enhancers	Lung	lung
2	chr5:17604200-17604600	Enhancers	Hela-S3	cervix
3	chr5:17607400-17607600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:17616600-17616800	ZNF genes & repeats	Brain Hippocampus Middle	brain
5	chr5:17619200-17620600	Enhancers	Hela-S3	cervix
6	chr5:17620600-17621000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:17639200-17640000	Enhancers	Liver	Liver
8	chr5:17652200-17652400	Enhancers	HSMM	muscle
9	chr5:17662200-17662800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:17662800-17663000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:17662800-17663400	Enhancers	Fetal Muscle Trunk	muscle
12	chr5:17663000-17669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:17664200-17664800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr5:17664200-17665400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr5:17664200-17665600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:17664200-17665800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:17664400-17664800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:17664400-17664800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr5:17664400-17665000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:17664400-17665000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:17664400-17665800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:17664600-17664800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:17664800-17665800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:17665600-17668000	Enhancers	Primary B cells from cord blood	blood
25	chr5:17666000-17668000	Enhancers	Primary B cells from peripheral blood	blood
26	chr5:17670400-17670800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:17678800-17680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr5:17678800-17680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:17678800-17680800	Enhancers	HMEC	breast
30	chr5:17678800-17681400	Enhancers	Hela-S3	cervix
31	chr5:17679000-17680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr5:17679200-17680800	Enhancers	A549	lung
33	chr5:17679600-17680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:17679600-17680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:17679800-17680200	Enhancers	NHEK	skin
36	chr5:17681400-17684400	Weak transcription	Hela-S3	cervix
37	chr5:17682800-17683000	Enhancers	Ovary	ovary
38	chr5:17683000-17684400	Weak transcription	Ovary	ovary
39	chr5:17684400-17684800	Flanking Active TSS	Ovary	ovary
40	chr5:17684400-17685200	Active TSS	Hela-S3	cervix
41	chr5:17684800-17685200	Enhancers	Ovary	ovary
42	chr5:17690200-17690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:17690200-17690800	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr5:17690200-17691600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:17691400-17697000	Enhancers	Hela-S3	cervix
46	chr5:17692000-17692200	Enhancers	HMEC	breast
47	chr5:17692200-17692400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:17692200-17692600	Enhancers	Placenta	Placenta
49	chr5:17692600-17694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:17694200-17696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links