Variant report

Variant	nsv597355
Chromosome Location	chr5:17642516-17745165
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	chr5:17694481-17695921	Hela-S3	cervix:	n/a	n/a
4	BRCA1	chr5:17679984-17680257	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr5:17691746-17692676	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr5:17694461-17695782	Hela-S3	cervix:	n/a	n/a
7	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
8	CEBPB	chr5:17679986-17680295	A549	lung:	n/a	chr5:17680161-17680172
9	CEBPB	chr5:17679822-17680468	A549	lung:	n/a	chr5:17680161-17680172
10	CEBPB	chr5:17694987-17695485	MCF-7	breast:	n/a	n/a
11	CEBPB	chr5:17740015-17740160	Hela-S3	cervix:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
12	CEBPB	chr5:17679987-17680283	HepG2	liver:	n/a	chr5:17680161-17680172
13	CEBPB	chr5:17667008-17667264	A549	lung:	n/a	n/a
14	CEBPB	chr5:17667048-17667244	IMR90	lung:	n/a	n/a
15	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
16	CEBPB	chr5:17676850-17677041	IMR90	lung:	n/a	chr5:17676912-17676923
17	CEBPB	chr5:17676779-17677058	HepG2	liver:	n/a	chr5:17676912-17676923
18	CEBPB	chr5:17727071-17727684	Hela-S3	cervix:	n/a	chr5:17727253-17727266 chr5:17727329-17727342
19	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
20	CEBPB	chr5:17691832-17692471	Hela-S3	cervix:	n/a	chr5:17692053-17692070
21	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
22	CEBPB	chr5:17694967-17695397	MCF-7	breast:	n/a	n/a
23	CEBPB	chr5:17694967-17695479	A549	lung:	n/a	n/a
24	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
25	CEBPB	chr5:17695079-17695387	A549	lung:	n/a	n/a
26	CEBPB	chr5:17713504-17713704	HepG2	liver:	n/a	n/a
27	CEBPB	chr5:17676882-17676947	K562	blood:	n/a	chr5:17676912-17676923
28	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
29	CEBPB	chr5:17694817-17695648	A549	lung:	n/a	n/a
30	CEBPB	chr5:17676818-17677046	A549	lung:	n/a	chr5:17676912-17676923
31	CEBPB	chr5:17740027-17740142	A549	lung:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
32	CEBPB	chr5:17679832-17680634	Hela-S3	cervix:	n/a	chr5:17680161-17680172
33	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
34	CEBPB	chr5:17691305-17691412	Hela-S3	cervix:	n/a	n/a
35	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
36	CEBPB	chr5:17680008-17680237	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
37	CEBPB	chr5:17739921-17740201	HepG2	liver:	n/a	chr5:17740105-17740116 chr5:17740077-17740088 chr5:17740105-17740116
38	CEBPB	chr5:17679965-17680281	MCF-7	breast:	n/a	chr5:17680161-17680172
39	CEBPB	chr5:17679981-17680265	ECC-1	luminal epithelium:	n/a	chr5:17680161-17680172
40	CEBPB	chr5:17680006-17680300	IMR90	lung:	n/a	chr5:17680161-17680172
41	CEBPB	chr5:17679962-17680276	A549	lung:	n/a	chr5:17680161-17680172
42	CHD2	chr5:17694498-17695438	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr5:17679972-17680355	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr5:17670580-17670730	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr5:17670540-17670690	SK-N-SH_RA	brain:	n/a	n/a
46	CTCF	chr5:17649101-17649128	GM13976	blood:	n/a	n/a
47	CTCF	chr5:17712922-17712949	ProgFib	skin:	n/a	n/a
48	CTCF	chr5:17655516-17655567	MCF-7	breast:	n/a	n/a
49	CTCF	chr5:17670500-17670650	WERI-Rb-1	eye:	n/a	n/a
50	CTCF	chr5:17670460-17670610	HEK293	kidney:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:17664567-17664617	SK-N-SH_RA	brain:	n/a
2	chr5:17670475-17670525	Caco-2	colon:	n/a
3	chr5:17655356-17655406	BJ	skin:	n/a
4	chr5:17670475-17670525	K562	blood:	n/a
5	chr5:17664567-17664617	HAEpiC	amniotic membrane:	n/a
6	chr5:17654594-17654644	HIPEpiC	eye:	n/a
7	chr5:17664567-17664617	SK-N-SH	brain:	n/a
8	chr5:17656637-17656687	Hepatocyte	liver:	n/a
9	chr5:17656637-17656687	HL-60	blood:	n/a
10	chr5:17670442-17670492	T-47D	breast:	n/a
11	chr5:17670442-17670492	GM12892	blood:	n/a
12	chr5:17656637-17656687	HNPCEpiC	eye:	n/a
13	chr5:17670442-17670492	SK-N-MC	brain:	n/a
14	chr5:17670442-17670492	BE2_C	brain:	n/a
15	chr5:17670475-17670525	HNPCEpiC	eye:	n/a
16	chr5:17656637-17656687	NHDF-neo	bronchial:	n/a
17	chr5:17664567-17664617	HepG2	liver:	n/a
18	chr5:17670442-17670492	AoSMC	blood vessel:	n/a
19	chr5:17654594-17654644	BE2_C	brain:	n/a
20	chr5:17656637-17656687	Hela-S3	cervix:	n/a
21	chr5:17670442-17670492	AG10803	skin:	n/a
22	chr5:17670442-17670492	K562	blood:	n/a
23	chr5:17654594-17654644	NHBE	bronchial:	n/a
24	chr5:17670442-17670492	HEEpiC	esophagus:	n/a
25	chr5:17656637-17656687	H1-hESC	embryonic stem cell:	embryo
26	chr5:17656637-17656687	T-47D	breast:	n/a
27	chr5:17654594-17654644	LNCaP	prostate:	n/a
28	chr5:17656637-17656687	SK-N-SH_RA	brain:	n/a
29	chr5:17670442-17670492	U87	brain:	n/a
30	chr5:17656637-17656687	GM06990	blood:	n/a
31	chr5:17664567-17664617	H1-hESC	embryonic stem cell:	embryo
32	chr5:17664567-17664617	HIPEpiC	eye:	n/a
33	chr5:17670442-17670492	SAEC	small airway:	n/a
34	chr5:17664567-17664617	HEK293	kidney:	embryo
35	chr5:17656637-17656687	HPAEpiC	pulmonary alveolar:	n/a
36	chr5:17654594-17654644	Hepatocyte	liver:	n/a
37	chr5:17670475-17670525	HEEpiC	esophagus:	n/a
38	chr5:17654594-17654644	HUVEC	blood vessel:	n/a
39	chr5:17655356-17655406	K562	blood:	n/a
40	chr5:17670475-17670525	HL-60	blood:	n/a
41	chr5:17670475-17670525	HIPEpiC	eye:	n/a
42	chr5:17670442-17670492	SKMC	muscle:	n/a
43	chr5:17664567-17664617	BJ	skin:	n/a
44	chr5:17655356-17655406	MCF-7	breast:	n/a
45	chr5:17656637-17656687	LNCaP	prostate:	n/a
46	chr5:17670442-17670492	SK-N-SH_RA	brain:	n/a
47	chr5:17656637-17656687	BJ	skin:	n/a
48	chr5:17670475-17670525	BE2_C	brain:	n/a
49	chr5:17664567-17664617	SAEC	small airway:	n/a
50	chr5:17670475-17670525	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:
2	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
3	chr5:17216395..17218536-chr5:17655025..17657774,2	MCF-7	breast:
4	chr5:17644806..17646667-chr5:17648582..17651312,2	MCF-7	breast:
5	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
6	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
7	chr5:17217433..17219821-chr5:17690448..17693197,3	MCF-7	breast:
8	chr5:17719378..17721402-chr5:17724190..17726007,2	MCF-7	breast:
9	chr5:17702899..17705763-chr5:17710587..17714118,3	MCF-7	breast:
10	chr5:17737382..17739045-chr5:17741320..17743486,2	K562	blood:
11	chr5:17693367..17696364-chr5:17702400..17704641,2	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000248542	TF binding region
ENSG00000248471	TF binding region
ENSG00000269466	TF binding region
ENSG00000250715	TF binding region
ENSG00000248337	TF binding region
ENSG00000248160	TF binding region
ENSG00000249937	TF binding region
ENSG00000248542	CpG island
ENSG00000248471	CpG island
ENSG00000269466	CpG island
ENSG00000250715	CpG island
ENSG00000248337	CpG island
ENSG00000248160	CpG island
ENSG00000249937	CpG island
ENSG00000248542	chromatin interactions
ENSG00000215196	chromatin interactions
ENSG00000176788	chromatin interactions

Extended variants
information (count: 1867 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1867 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371794281	chr5:17643085-17643086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs937963	chr5:17643110-17643111	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138727760	chr5:17643117-17643118	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs528622677	chr5:17643122-17643123	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs111294796	chr5:17643136-17643137	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs872306	chr5:17643139-17643140	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs1814798	chr5:17643183-17643184	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181002253	chr5:17643186-17643187	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs567968702	chr5:17643191-17643192	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs565151011	chr5:17643219-17643220	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs114855178	chr5:17643220-17643221	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs115390928	chr5:17643221-17643222	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs62350355	chr5:17643233-17643234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs534755521	chr5:17643245-17643246	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs150762294	chr5:17643328-17643329	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs530526621	chr5:17644859-17644860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550613357	chr5:17644860-17644861	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189723649	chr5:17644877-17644878	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs576407794	chr5:17644911-17644912	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529875251	chr5:17645000-17645001	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546509891	chr5:17645016-17645017	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs543807092	chr5:17645039-17645040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs151099499	chr5:17645114-17645115	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs34139770	chr5:17645116-17645117	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs538593497	chr5:17645146-17645147	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112001389	chr5:17645160-17645161	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs558431625	chr5:17645161-17645162	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568870750	chr5:17645178-17645179	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111352772	chr5:17645217-17645218	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183365986	chr5:17645226-17645227	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs574865759	chr5:17645343-17645344	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs117463861	chr5:17645350-17645351	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554448918	chr5:17645396-17645397	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs577611272	chr5:17645403-17645404	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs61572687	chr5:17645438-17645439	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75054305	chr5:17645459-17645460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs558080039	chr5:17645527-17645528	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563189159	chr5:17645531-17645532	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs77817145	chr5:17645543-17645544	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555980535	chr5:17645552-17645553	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs193190153	chr5:17645562-17645563	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs185134221	chr5:17645566-17645567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs187942514	chr5:17645590-17645591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs529791293	chr5:17645597-17645598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs546384336	chr5:17645643-17645644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs566282707	chr5:17645648-17645649	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs60281107	chr5:17645676-17645677	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs568833528	chr5:17645717-17645718	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs112708764	chr5:17645750-17645751	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192505703	chr5:17645767-17645768	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17652200-17652400	Enhancers	HSMM	muscle
2	chr5:17662200-17662800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:17662800-17663000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:17662800-17663400	Enhancers	Fetal Muscle Trunk	muscle
5	chr5:17663000-17669200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:17664200-17664800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr5:17664200-17665400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:17664200-17665600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:17664200-17665800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:17664400-17664800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:17664400-17664800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:17664400-17665000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:17664400-17665000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr5:17664400-17665800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:17664600-17664800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:17664800-17665800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:17665600-17668000	Enhancers	Primary B cells from cord blood	blood
18	chr5:17666000-17668000	Enhancers	Primary B cells from peripheral blood	blood
19	chr5:17670400-17670800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:17678800-17680000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:17678800-17680000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:17678800-17680800	Enhancers	HMEC	breast
23	chr5:17678800-17681400	Enhancers	Hela-S3	cervix
24	chr5:17679000-17680600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:17679200-17680800	Enhancers	A549	lung
26	chr5:17679600-17680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:17679600-17680600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:17679800-17680200	Enhancers	NHEK	skin
29	chr5:17681400-17684400	Weak transcription	Hela-S3	cervix
30	chr5:17682800-17683000	Enhancers	Ovary	ovary
31	chr5:17683000-17684400	Weak transcription	Ovary	ovary
32	chr5:17684400-17684800	Flanking Active TSS	Ovary	ovary
33	chr5:17684400-17685200	Active TSS	Hela-S3	cervix
34	chr5:17684800-17685200	Enhancers	Ovary	ovary
35	chr5:17690200-17690800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:17690200-17690800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr5:17690200-17691600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:17691400-17697000	Enhancers	Hela-S3	cervix
39	chr5:17692000-17692200	Enhancers	HMEC	breast
40	chr5:17692200-17692400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:17692200-17692600	Enhancers	Placenta	Placenta
42	chr5:17692600-17694200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr5:17694200-17696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:17694200-17696600	Enhancers	NHEK	skin
45	chr5:17694400-17696600	Enhancers	HMEC	breast
46	chr5:17694600-17695000	Enhancers	A549	lung
47	chr5:17694600-17696400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:17695000-17695800	Flanking Active TSS	A549	lung
49	chr5:17695400-17696000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:17695800-17696000	Enhancers	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links