Variant report

Variant	nsv539670
Chromosome Location	chr8:89927580-90104483
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:89981805..89984539-chr8:89992447..89994087,2	MCF-7	breast:
2	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
3	chr8:89981805..89984539-chr8:89992447..89994087,2	MCF-7	breast:
4	chr8:89983917..89985937-chr8:89988632..89991497,2	MCF-7	breast:
5	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
6	chr8:89931260..89931962-chr8:90629037..90630035,2	MCF-7	breast:
7	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
8	chr8:89983917..89985937-chr8:89988632..89991497,2	MCF-7	breast:
9	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
10	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
11	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:
12	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
13	chr8:90082329..90084516-chr8:90097309..90099029,2	K562	blood:
14	chr8:89930914..89931750-chr8:90701140..90701846,2	MCF-7	breast:
15	chr5:134900665..134901406-chr8:90016865..90017446,2	MCF-7	breast:
16	chr8:90074965..90076573-chr8:102340913..102342555,2	MCF-7	breast:
17	chr8:90084020..90084547-chr8:90629249..90629749,2	MCF-7	breast:
18	chr8:90014072..90014862-chr8:111171720..111172332,2	MCF-7	breast:
19	chr17:66790796..66791327-chr8:90031920..90032588,2	MCF-7	breast:
20	chr8:90082329..90084516-chr8:90097309..90099029,2	K562	blood:
21	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:
22	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:
23	chr8:90092575..90095200-chr8:90099585..90102136,2	MCF-7	breast:
24	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:
25	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:
26	chr8:90092575..90095200-chr8:90099585..90102136,2	MCF-7	breast:
27	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 4692 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:4692 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542267738	chr8:89931292-89931293	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116337258	chr8:89931293-89931294	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs373317505	chr8:89931305-89931306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115626494	chr8:89931340-89931341	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs11778650	chr8:89931360-89931361	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs115164073	chr8:89931386-89931387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568732307	chr8:89931390-89931391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374652300	chr8:89931395-89931396	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs564765686	chr8:89931407-89931408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529756150	chr8:89931428-89931429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs548175778	chr8:89931430-89931431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575314227	chr8:89931464-89931465	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181982168	chr8:89931514-89931515	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530652976	chr8:89931554-89931555	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141565613	chr8:89931578-89931579	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs61504245	chr8:89931604-89931605	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs570744785	chr8:89931607-89931608	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370745535	chr8:89931621-89931622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376200536	chr8:89931628-89931629	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534868209	chr8:89931640-89931641	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs6986236	chr8:89931641-89931642	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs568407930	chr8:89931645-89931646	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375928483	chr8:89931651-89931652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563996322	chr8:89931671-89931672	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557329430	chr8:89931727-89931728	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370592070	chr8:89931816-89931817	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575513753	chr8:89931869-89931870	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs28475643	chr8:89931870-89931871	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558258403	chr8:89931880-89931881	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs112449703	chr8:89931896-89931897	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7000081	chr8:89931904-89931905	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561656224	chr8:89931905-89931906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189597366	chr8:89931944-89931945	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142086350	chr8:89931962-89931963	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559333408	chr8:89938003-89938004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56032547	chr8:89938031-89938032	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540882498	chr8:89938058-89938059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563228099	chr8:89938099-89938100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530482018	chr8:89938100-89938101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189575518	chr8:89938131-89938132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145068809	chr8:89938169-89938170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs77685568	chr8:89938182-89938183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191911083	chr8:89938184-89938185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568472627	chr8:89938204-89938205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138857551	chr8:89938220-89938221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs141449711	chr8:89938221-89938222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1548120	chr8:89938225-89938226	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539911148	chr8:89938289-89938290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558798632	chr8:89938331-89938332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs77927578	chr8:89938392-89938393	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89938000-89939200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:89938400-89938800	Enhancers	HMEC	breast
3	chr8:89938400-89939000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:89938400-89939000	Enhancers	NHDF-Ad	bronchial
5	chr8:89938600-89939000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:89939000-89953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:89951000-89951800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:89951200-89952400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:89951400-89955000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr8:89951800-89952200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:89951800-89953000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:89951800-89953000	Enhancers	NHDF-Ad	bronchial
13	chr8:89951800-89954800	Enhancers	Osteobl	bone
14	chr8:89951800-89955000	Enhancers	Hela-S3	cervix
15	chr8:89952000-89952400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:89952000-89952400	Enhancers	NH-A	brain
17	chr8:89952200-89952400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr8:89952200-89952800	Enhancers	HMEC	breast
19	chr8:89952200-89953000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:89952400-89952600	Weak transcription	NH-A	brain
21	chr8:89952400-89952800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:89952600-89953000	Enhancers	NH-A	brain
23	chr8:89952600-89953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:89952800-89953000	Enhancers	HSMM	muscle
25	chr8:89952800-89954200	Weak transcription	HMEC	breast
26	chr8:89952800-89955000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:89953000-89953400	Weak transcription	NHDF-Ad	bronchial
28	chr8:89953000-89953600	Weak transcription	HSMM	muscle
29	chr8:89953000-89954000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:89953000-89954200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr8:89953000-89954200	Weak transcription	NH-A	brain
32	chr8:89953400-89954600	Enhancers	NHDF-Ad	bronchial
33	chr8:89953600-89954400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr8:89953600-89954600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr8:89953600-89955000	Enhancers	HSMM	muscle
36	chr8:89953800-89954400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:89953800-89954600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr8:89953800-89954800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:89953800-89955000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:89954000-89954600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:89954000-89954600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:89954000-89955400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:89954200-89954600	Enhancers	Brain Angular Gyrus	brain
44	chr8:89954200-89954800	Enhancers	HMEC	breast
45	chr8:89954200-89955000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:89954400-89954600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:89954600-89954800	Enhancers	NH-A	brain
48	chr8:89954800-89956400	Weak transcription	HMEC	breast
49	chr8:89955000-89956400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr8:89955000-89956400	Weak transcription	Hela-S3	cervix

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