Variant report

Variant	nsv891053
Chromosome Location	chr8:78612055-78768174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
2	chr8:78626426..78628244-chr8:78635247..78637782,2	MCF-7	breast:
3	chr13:31039728..31040439-chr8:78741209..78742131,2	HCT-116	colon:
4	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
5	chr8:78626426..78628244-chr8:78635247..78637782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 758 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:758 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192616400	chr8:78618643-78618644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536600901	chr8:78618674-78618675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs534268925	chr8:78618689-78618690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571312208	chr8:78618730-78618731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138599920	chr8:78618746-78618747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140188907	chr8:78618806-78618807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139563882	chr8:78618843-78618844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200696647	chr8:78618851-78618852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559105579	chr8:78618852-78618853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs201202664	chr8:78618853-78618854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545916138	chr8:78618856-78618857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564206519	chr8:78618878-78618879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373602036	chr8:78618917-78618918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185661977	chr8:78618984-78618985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549862619	chr8:78619043-78619044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116757097	chr8:78619083-78619084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562454546	chr8:78619084-78619085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529552576	chr8:78619085-78619086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376196450	chr8:78619110-78619111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566297133	chr8:78619116-78619117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540003556	chr8:78619130-78619131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7005485	chr8:78619137-78619138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs370684283	chr8:78619169-78619170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572123039	chr8:78619190-78619191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189394652	chr8:78619287-78619288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181719604	chr8:78619305-78619306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555057766	chr8:78619324-78619325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55990934	chr8:78619332-78619333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79547273	chr8:78619342-78619343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186074299	chr8:78619347-78619348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534592499	chr8:78619356-78619357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552822077	chr8:78619384-78619385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577431518	chr8:78619387-78619388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188877823	chr8:78619409-78619410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370532550	chr8:78619412-78619413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564246181	chr8:78619501-78619502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs1116418	chr8:78619510-78619511	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552912184	chr8:78619514-78619515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561921557	chr8:78619523-78619524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs116835346	chr8:78619525-78619526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541760089	chr8:78619565-78619566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560044623	chr8:78619615-78619616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533566722	chr8:78619628-78619629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150310099	chr8:78619668-78619669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569808659	chr8:78619686-78619687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540645320	chr8:78619702-78619703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530505694	chr8:78619771-78619772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548989861	chr8:78619796-78619797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554633401	chr8:78619807-78619808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112876115	chr8:78619811-78619812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Acute myeloid leukemia	21251322	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

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78618600-78619200	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:78618800-78619000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:78618800-78619000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:78619000-78620000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:78619200-78620400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:78619600-78620600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:78619800-78621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:78620000-78620600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr8:78620000-78621400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:78620200-78621400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr8:78620400-78621200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr8:78620600-78620800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr8:78620600-78621200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:78620600-78621200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:78620800-78621000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:78620800-78621200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:78620800-78621200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:78621000-78621200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr8:78639400-78640000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr8:78639600-78640000	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr8:78639800-78640200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr8:78642000-78643600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:78643600-78644000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:78644000-78644200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:78644200-78647800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:78647000-78647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr8:78647600-78647800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:78647600-78648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:78647800-78648000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:78647800-78648800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:78648000-78648200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:78648200-78649000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:78657400-78657800	Enhancers	Esophagus	oesophagus
34	chr8:78657400-78658200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:78657400-78658200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr8:78664000-78664800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr8:78672000-78672400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr8:78701400-78701600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:78712800-78713200	Enhancers	Fetal Muscle Leg	muscle
40	chr8:78714800-78715400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:78715400-78716400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:78715800-78716400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:78716400-78716600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:78718800-78719200	Active TSS	Aorta	Aorta
45	chr8:78729200-78729600	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:78732800-78733600	Enhancers	Fetal Muscle Leg	muscle
47	chr8:78733600-78734200	Weak transcription	Fetal Muscle Leg	muscle
48	chr8:78734200-78734400	Enhancers	Fetal Muscle Leg	muscle
49	chr8:78742200-78742600	Enhancers	Fetal Muscle Trunk	muscle

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