Variant report

Variant	nsv1020312
Chromosome Location	chr5:17655126-17794563
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	BCL3	chr5:17694847-17695529	A549	lung:	n/a	chr5:17695250-17695259
3	BRCA1	chr5:17679984-17680257	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr5:17691746-17692676	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr5:17694481-17695921	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:17739921-17740201	HepG2	liver:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
7	CEBPB	chr5:17691305-17691412	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr5:17729587-17730068	A549	lung:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
9	CEBPB	chr5:17694967-17695479	A549	lung:	n/a	n/a
10	CEBPB	chr5:17748415-17748592	A549	lung:	n/a	n/a
11	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
12	CEBPB	chr5:17679962-17680276	A549	lung:	n/a	chr5:17680161-17680172
13	CEBPB	chr5:17785926-17786235	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr5:17679822-17680468	A549	lung:	n/a	chr5:17680161-17680172
15	CEBPB	chr5:17729734-17729939	H1-hESC	embryonic stem cell:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
16	CEBPB	chr5:17680006-17680300	IMR90	lung:	n/a	chr5:17680161-17680172
17	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
18	CEBPB	chr5:17729720-17730107	MCF-7	breast:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
19	CEBPB	chr5:17679965-17680281	MCF-7	breast:	n/a	chr5:17680161-17680172
20	CEBPB	chr5:17694967-17695397	MCF-7	breast:	n/a	n/a
21	CEBPB	chr5:17667048-17667244	IMR90	lung:	n/a	n/a
22	CEBPB	chr5:17695079-17695387	A549	lung:	n/a	n/a
23	CEBPB	chr5:17727071-17727684	Hela-S3	cervix:	n/a	chr5:17727253-17727266 chr5:17727329-17727342
24	CEBPB	chr5:17740027-17740142	A549	lung:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
25	CEBPB	chr5:17679981-17680265	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
26	CEBPB	chr5:17679987-17680283	HepG2	liver:	n/a	chr5:17680161-17680172
27	CEBPB	chr5:17774889-17775189	IMR90	lung:	n/a	chr5:17775069-17775080
28	CEBPB	chr5:17694987-17695485	MCF-7	breast:	n/a	n/a
29	CEBPB	chr5:17729711-17729983	Hela-S3	cervix:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831
30	CEBPB	chr5:17676850-17677041	IMR90	lung:	n/a	chr5:17676912-17676923
31	CEBPB	chr5:17740015-17740160	Hela-S3	cervix:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
32	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
33	CEBPB	chr5:17679986-17680295	A549	lung:	n/a	chr5:17680161-17680172
34	CEBPB	chr5:17667008-17667264	A549	lung:	n/a	n/a
35	CEBPB	chr5:17676779-17677058	HepG2	liver:	n/a	chr5:17676912-17676923
36	CEBPB	chr5:17680008-17680237	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
37	CEBPB	chr5:17691832-17692471	Hela-S3	cervix:	n/a	chr5:17692053-17692070
38	CEBPB	chr5:17679832-17680634	Hela-S3	cervix:	n/a	chr5:17680161-17680172
39	CEBPB	chr5:17774902-17775229	HepG2	liver:	n/a	chr5:17775069-17775080
40	CEBPB	chr5:17774901-17775234	K562	blood:	n/a	chr5:17775069-17775080
41	CEBPB	chr5:17790133-17790384	HepG2	liver:	n/a	chr5:17790278-17790289 chr5:17790276-17790289 chr5:17790276-17790287
42	CEBPB	chr5:17694461-17695782	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr5:17748415-17748586	IMR90	lung:	n/a	n/a
44	CEBPB	chr5:17676882-17676947	K562	blood:	n/a	chr5:17676912-17676923
45	CEBPB	chr5:17774965-17775215	Hela-S3	cervix:	n/a	chr5:17775069-17775080
46	CEBPB	chr5:17790244-17790321	A549	lung:	n/a	chr5:17790278-17790289 chr5:17790276-17790289 chr5:17790276-17790287
47	CEBPB	chr5:17713504-17713704	HepG2	liver:	n/a	n/a
48	CEBPB	chr5:17763029-17763403	MCF-7	breast:	n/a	chr5:17763233-17763250
49	CEBPB	chr5:17676818-17677046	A549	lung:	n/a	chr5:17676912-17676923
50	CEBPB	chr5:17729679-17730005	A549	lung:	n/a	chr5:17729818-17729829 chr5:17729820-17729829 chr5:17729820-17729829 chr5:17729818-17729831 chr5:17729820-17729829 chr5:17729818-17729831

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17655356-17655406	HL-60	blood:	n/a
2	chr5:17670475-17670525	SK-N-SH_RA	brain:	n/a
3	chr5:17656637-17656687	T-47D	breast:	n/a
4	chr5:17656637-17656687	AG09309	skin:	n/a
5	chr5:17664567-17664617	AG04450	lung:	fetal
6	chr5:17670442-17670492	SK-N-SH_RA	brain:	n/a
7	chr5:17670442-17670492	T-47D	breast:	n/a
8	chr5:17656637-17656687	GM06990	blood:	n/a
9	chr5:17670475-17670525	IMR90	lung:	fetal
10	chr5:17670442-17670492	HEEpiC	esophagus:	n/a
11	chr5:17664567-17664617	SKMC	muscle:	n/a
12	chr5:17664567-17664617	Hepatocyte	liver:	n/a
13	chr5:17655356-17655406	AG10803	skin:	n/a
14	chr5:17670475-17670525	AG04449	skin:	fetal
15	chr5:17656637-17656687	NT2-D1	testis:	n/a
16	chr5:17664567-17664617	HAEpiC	amniotic membrane:	n/a
17	chr5:17670475-17670525	SAEC	small airway:	n/a
18	chr5:17670475-17670525	HRPEpiC	eye:	n/a
19	chr5:17664567-17664617	SK-N-MC	brain:	n/a
20	chr5:17656637-17656687	SK-N-MC	brain:	n/a
21	chr5:17664567-17664617	HRE	kidney:	n/a
22	chr5:17670475-17670525	HCF	heart:	n/a
23	chr5:17670442-17670492	NH-A	brain:	n/a
24	chr5:17664567-17664617	HMEC	breast:	n/a
25	chr5:17655356-17655406	MCF10A-Er-Src	breast:	n/a
26	chr5:17670442-17670492	AG09309	skin:	n/a
27	chr5:17656637-17656687	HCT-116	colon:	n/a
28	chr5:17670442-17670492	Caco-2	colon:	n/a
29	chr5:17670475-17670525	HNPCEpiC	eye:	n/a
30	chr5:17656637-17656687	Caco-2	colon:	n/a
31	chr5:17670475-17670525	NHBE	bronchial:	n/a
32	chr5:17664567-17664617	ECC-1	luminal epithelium:	n/a
33	chr5:17655356-17655406	HRE	kidney:	n/a
34	chr5:17670475-17670525	CMK	blood:	n/a
35	chr5:17670442-17670492	LNCaP	prostate:	n/a
36	chr5:17656637-17656687	HL-60	blood:	n/a
37	chr5:17670442-17670492	A549	lung:	n/a
38	chr5:17664567-17664617	LNCaP	prostate:	n/a
39	chr5:17655356-17655406	SK-N-SH_RA	brain:	n/a
40	chr5:17670475-17670525	Jurkat	blood:	n/a
41	chr5:17670442-17670492	BE2_C	brain:	n/a
42	chr5:17656637-17656687	BJ	skin:	n/a
43	chr5:17664567-17664617	U87	brain:	n/a
44	chr5:17664567-17664617	CMK	blood:	n/a
45	chr5:17655356-17655406	AG04450	lung:	fetal
46	chr5:17670442-17670492	PANC-1	pancreas:	n/a
47	chr5:17664567-17664617	HEK293	kidney:	embryo
48	chr5:17655356-17655406	HRPEpiC	eye:	n/a
49	chr5:17670442-17670492	HepG2	liver:	n/a
50	chr5:17664567-17664617	NHDF-neo	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:17217433..17219821-chr5:17690448..17693197,3	MCF-7	breast:
2	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
3	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
4	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
5	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
6	chr5:17788405..17790978-chr5:17794011..17796191,2	MCF-7	breast:
7	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
8	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
9	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
10	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
11	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
12	chr5:17719378..17721402-chr5:17724190..17726007,2	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-BASP1-7	chr5:17684693-17684796	NONHSAT100665
4	lnc-BASP1-7	chr5:17769003-17769093	ENSG00000249937

Variant related genes	Relation type
ENSG00000250715	TF binding region
ENSG00000248337	TF binding region
ENSG00000249937	TF binding region
ENSG00000269466	TF binding region
ENSG00000250715	CpG island
ENSG00000248337	CpG island
ENSG00000249937	CpG island
ENSG00000269466	CpG island
ENSG00000215196	chromatin interactions
ENSG00000176788	chromatin interactions

Extended variants
information (count: 2561 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:2561 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146374636	chr5:17655147-17655148	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs187240970	chr5:17655155-17655156	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs201671458	chr5:17655220-17655221	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs189259099	chr5:17655226-17655227	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs557752469	chr5:17655242-17655243	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs180758285	chr5:17655248-17655249	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs371480730	chr5:17655260-17655261	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs139670564	chr5:17655262-17655263	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs557442228	chr5:17655297-17655298	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs573755456	chr5:17655306-17655307	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs542813442	chr5:17655335-17655336	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10074729	chr5:17655339-17655340	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs539278588	chr5:17655374-17655375	Inactive region	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs528649083	chr5:17655387-17655388	Inactive region	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371722816	chr5:17655388-17655389	Inactive region	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs565414611	chr5:17655410-17655411	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs532961670	chr5:17655456-17655457	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs549471833	chr5:17655505-17655506	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs572658907	chr5:17655506-17655507	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs113901801	chr5:17655528-17655529	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs113131287	chr5:17655556-17655557	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs529047716	chr5:17655569-17655570	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549091090	chr5:17655573-17655574	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs566572916	chr5:17655591-17655592	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs565916700	chr5:17655641-17655642	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs534497753	chr5:17655650-17655651	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs117401092	chr5:17655676-17655677	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs571415553	chr5:17655713-17655714	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs185604528	chr5:17655726-17655727	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs573570110	chr5:17655748-17655749	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs560115779	chr5:17655766-17655767	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs556888911	chr5:17655768-17655769	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs544179354	chr5:17655774-17655775	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs542750076	chr5:17655781-17655782	Inactive region	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs535185930	chr5:17655815-17655816	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs190060842	chr5:17655837-17655838	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs34712856	chr5:17655855-17655856	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573410107	chr5:17655856-17655857	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34412247	chr5:17655858-17655859	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs545239512	chr5:17655878-17655879	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs35865432	chr5:17655879-17655880	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs181689492	chr5:17655901-17655902	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs186757442	chr5:17655902-17655903	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34154727	chr5:17655903-17655904	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs544888857	chr5:17655912-17655913	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs145241553	chr5:17655917-17655918	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528881137	chr5:17655978-17655979	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563998661	chr5:17656018-17656019	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373643623	chr5:17656037-17656038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs6888972	chr5:17656043-17656044	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	21293372	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:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17662200-17662800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:17662800-17663000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:17662800-17663400	Enhancers	Fetal Muscle Trunk	muscle
4	chr5:17663000-17669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:17664200-17664800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr5:17664200-17665400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:17664200-17665600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:17664200-17665800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:17664400-17664800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr5:17664400-17664800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:17664400-17665000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:17664400-17665000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:17664400-17665800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:17664600-17664800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:17664800-17665800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr5:17665600-17668000	Enhancers	Primary B cells from cord blood	blood
17	chr5:17666000-17668000	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:17670400-17670800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:17678800-17680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:17678800-17680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:17678800-17680800	Enhancers	HMEC	breast
22	chr5:17678800-17681400	Enhancers	Hela-S3	cervix
23	chr5:17679000-17680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:17679200-17680800	Enhancers	A549	lung
25	chr5:17679600-17680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:17679600-17680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:17679800-17680200	Enhancers	NHEK	skin
28	chr5:17681400-17684400	Weak transcription	Hela-S3	cervix
29	chr5:17682800-17683000	Enhancers	Ovary	ovary
30	chr5:17683000-17684400	Weak transcription	Ovary	ovary
31	chr5:17684400-17684800	Flanking Active TSS	Ovary	ovary
32	chr5:17684400-17685200	Active TSS	Hela-S3	cervix
33	chr5:17684800-17685200	Enhancers	Ovary	ovary
34	chr5:17690200-17690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr5:17690200-17690800	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:17690200-17691600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:17691400-17697000	Enhancers	Hela-S3	cervix
38	chr5:17692000-17692200	Enhancers	HMEC	breast
39	chr5:17692200-17692400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:17692200-17692600	Enhancers	Placenta	Placenta
41	chr5:17692600-17694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:17694200-17696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:17694200-17696600	Enhancers	NHEK	skin
44	chr5:17694400-17696600	Enhancers	HMEC	breast
45	chr5:17694600-17695000	Enhancers	A549	lung
46	chr5:17694600-17696400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr5:17695000-17695800	Flanking Active TSS	A549	lung
48	chr5:17695400-17696000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:17695800-17696000	Enhancers	A549	lung
50	chr5:17696000-17696400	Weak transcription	A549	lung

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