Variant report

Variant	nsv6266
Chromosome Location	chr8:79156823-79202020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:79162917..79163612-chr8:79343717..79344374,3	MCF-7	breast:
2	chr8:79167734..79169707-chr8:79223707..79226271,2	K562	blood:
3	chr8:79163088..79164809-chr8:79169880..79172153,2	K562	blood:
4	chr8:79156655..79159520-chr8:79164294..79166738,2	MCF-7	breast:
5	chr8:78512754..78513523-chr8:79163081..79163614,2	MCF-7	breast:
6	chr17:59489020..59490535-chr8:79157298..79160276,2	MCF-7	breast:
7	chr8:79156655..79159520-chr8:79164294..79166738,2	MCF-7	breast:
8	chr8:79163088..79164809-chr8:79169880..79172153,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000187013	chromatin interactions

Extended variants
information (count: 605 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:605 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73250879	chr8:79156850-79156851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs112975091	chr8:79157027-79157028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575013244	chr8:79157032-79157033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555263484	chr8:79157054-79157055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150219068	chr8:79157090-79157091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138923013	chr8:79157091-79157092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558051211	chr8:79157092-79157093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576081106	chr8:79157107-79157108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539492416	chr8:79157125-79157126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543471692	chr8:79157127-79157128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561751963	chr8:79157128-79157129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558911352	chr8:79157130-79157131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527895654	chr8:79157308-79157309	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552559876	chr8:79157365-79157366	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138759955	chr8:79157465-79157466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs188105979	chr8:79157492-79157493	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549796467	chr8:79157498-79157499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs568203413	chr8:79157510-79157511	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs535597492	chr8:79157579-79157580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544443409	chr8:79157580-79157581	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181013566	chr8:79157609-79157610	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539642760	chr8:79157628-79157629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs372176593	chr8:79157644-79157645	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79597164	chr8:79157650-79157651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs185372421	chr8:79157652-79157653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs149353504	chr8:79157692-79157693	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs572835058	chr8:79157715-79157716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs555449288	chr8:79157744-79157745	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs143638198	chr8:79157757-79157758	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs540727596	chr8:79157832-79157833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs373760246	chr8:79157902-79157903	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138564521	chr8:79157989-79157990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs144072078	chr8:79158039-79158040	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147308288	chr8:79158079-79158080	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs189739094	chr8:79158098-79158099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531920344	chr8:79158152-79158153	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181667139	chr8:79158153-79158154	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186869856	chr8:79158347-79158348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529306048	chr8:79158386-79158387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79620763	chr8:79158416-79158417	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs566194990	chr8:79158454-79158455	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562395668	chr8:79158488-79158489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147269076	chr8:79158549-79158550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs539243448	chr8:79158600-79158601	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139233776	chr8:79158633-79158634	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs540272309	chr8:79158652-79158653	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542607255	chr8:79158706-79158707	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs569964226	chr8:79158728-79158729	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs537295187	chr8:79158731-79158732	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35813308	chr8:79158744-79158745	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21990379	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:79156800-79157200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:79161800-79163000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:79162600-79163000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:79162600-79163200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:79165800-79173200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr8:79171000-79171800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:79171000-79172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:79171800-79176200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:79172000-79176000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:79176000-79177000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:79176200-79176800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:79182400-79183400	Active TSS	Fetal Heart	heart
13	chr8:79192000-79192200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:79193400-79193600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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