Variant report

Variant	nsv891178
Chromosome Location	chr8:90289326-90337010
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:34604533..34606803-chr8:90292495..90294211,2	MCF-7	breast:
2	chr11:130374536..130375451-chr8:90305589..90306286,2	MCF-7	breast:
3	chr8:90303214..90305766-chr8:90314670..90316709,2	MCF-7	breast:
4	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:
5	chr8:90298606..90301134-chr8:90303709..90305368,2	K562	blood:
6	chr8:90328134..90330530-chr8:90335776..90338151,2	MCF-7	breast:
7	chr8:90286981..90288538-chr8:90289952..90292794,2	MCF-7	breast:
8	chr8:90303214..90305766-chr8:90314670..90316709,2	MCF-7	breast:
9	chr8:90313557..90316348-chr8:90316997..90319764,3	MCF-7	breast:
10	chr8:90298606..90301134-chr8:90303709..90305368,2	K562	blood:
11	chr8:90313557..90316348-chr8:90316997..90319764,3	MCF-7	breast:

No data

Extended variants
information (count: 1302 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1302 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10102049	chr8:90289326-90289327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141210060	chr8:90289377-90289378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563557962	chr8:90289380-90289381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576279822	chr8:90289388-90289389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552680761	chr8:90289403-90289404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543356376	chr8:90289436-90289437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564847615	chr8:90289444-90289445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532130028	chr8:90289453-90289454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547212657	chr8:90289454-90289455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559367434	chr8:90289501-90289502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79375648	chr8:90289503-90289504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548148035	chr8:90289542-90289543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570692668	chr8:90289585-90289586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569597364	chr8:90289614-90289615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181964693	chr8:90289654-90289655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552856474	chr8:90289707-90289708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571182290	chr8:90289716-90289717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535193305	chr8:90289732-90289733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186065889	chr8:90289738-90289739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539953975	chr8:90289764-90289765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117021097	chr8:90289794-90289795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11988494	chr8:90289830-90289831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1479898	chr8:90289836-90289837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545798897	chr8:90289844-90289845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564810979	chr8:90289853-90289854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10092015	chr8:90289861-90289862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs553039770	chr8:90289873-90289874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190939432	chr8:90289894-90289895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75082407	chr8:90289899-90289900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541519964	chr8:90289902-90289903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115776768	chr8:90289905-90289906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143849681	chr8:90289955-90289956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111378054	chr8:90289956-90289957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370673161	chr8:90289980-90289981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1842297	chr8:90290006-90290007	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150733114	chr8:90290042-90290043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535348584	chr8:90290094-90290095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111668089	chr8:90290115-90290116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs137929895	chr8:90290132-90290133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556556642	chr8:90290183-90290184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374568488	chr8:90290197-90290198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11776142	chr8:90290199-90290200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545525058	chr8:90290214-90290215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536058477	chr8:90290255-90290256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557131058	chr8:90290373-90290374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369516257	chr8:90290402-90290403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147545242	chr8:90290427-90290428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539415580	chr8:90290446-90290447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563827438	chr8:90290484-90290485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1383035	chr8:90290554-90290555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:106)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90281800-90295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:90291600-90292800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:90301400-90302000	Enhancers	Dnd41	blood
4	chr8:90301600-90302000	Enhancers	A549	lung
5	chr8:90301600-90302000	Enhancers	Osteobl	bone
6	chr8:90301600-90302400	Enhancers	Primary T cells from cord blood	blood
7	chr8:90301600-90303000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr8:90301600-90303200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr8:90301800-90302000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:90301800-90302600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:90301800-90302800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:90302000-90302600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:90302000-90302600	Active TSS	A549	lung
14	chr8:90302000-90302600	Active TSS	NHDF-Ad	bronchial
15	chr8:90302000-90302600	Active TSS	Osteobl	bone
16	chr8:90302000-90302800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:90302000-90302800	Flanking Active TSS	Dnd41	blood
18	chr8:90302200-90302400	Enhancers	HUVEC	blood vessel
19	chr8:90302200-90302600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:90302600-90302800	Enhancers	A549	lung
21	chr8:90302600-90303000	Enhancers	NHDF-Ad	bronchial
22	chr8:90302800-90303200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:90302800-90303200	Enhancers	Dnd41	blood
24	chr8:90312400-90312600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:90312800-90313400	Enhancers	Dnd41	blood
26	chr8:90313400-90314400	Weak transcription	Dnd41	blood
27	chr8:90314400-90314800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:90314400-90314800	Enhancers	Dnd41	blood
29	chr8:90314800-90318800	Weak transcription	Dnd41	blood
30	chr8:90318800-90320000	Enhancers	Dnd41	blood
31	chr8:90319200-90319800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr8:90319200-90321600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:90319200-90321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:90319400-90321600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:90319800-90321000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr8:90320400-90320800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:90320400-90321600	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:90320600-90321200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:90320600-90321400	Enhancers	NHEK	skin
40	chr8:90320600-90321600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:90320800-90321400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:90320800-90324800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:90321200-90325000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:90321400-90323400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:90321400-90324800	Weak transcription	NHEK	skin
46	chr8:90321600-90323400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:90321600-90324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:90321600-90324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:90321600-90325000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:90321600-90325200	Weak transcription	Primary hematopoietic stem cells	blood

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