Variant report

Variant	nsv982090
Chromosome Location	chr8:90023438-90094324
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90074965..90076573-chr8:102340913..102342555,2	MCF-7	breast:
2	chr8:90084020..90084547-chr8:90629249..90629749,2	MCF-7	breast:
3	chr17:66790796..66791327-chr8:90031920..90032588,2	MCF-7	breast:
4	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:
5	chr8:90092575..90095200-chr8:90099585..90102136,2	MCF-7	breast:
6	chr8:90082329..90084516-chr8:90097309..90099029,2	K562	blood:
7	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:
8	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
9	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:
10	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 1671 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1671 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185403674	chr8:90028215-90028216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565131371	chr8:90028246-90028247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532576108	chr8:90028256-90028257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189267863	chr8:90028300-90028301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546472085	chr8:90028320-90028321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567988360	chr8:90028328-90028329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs1240126	chr8:90028363-90028364	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181775194	chr8:90028389-90028390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186358238	chr8:90028392-90028393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548784102	chr8:90028462-90028463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140186271	chr8:90028477-90028478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116823562	chr8:90028486-90028487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549897889	chr8:90028512-90028513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571146698	chr8:90028523-90028524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556578348	chr8:90028564-90028565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548088935	chr8:90028573-90028574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566399559	chr8:90028594-90028595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532200906	chr8:90028606-90028607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143890148	chr8:90028619-90028620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146860696	chr8:90028626-90028627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576623132	chr8:90028656-90028657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537139749	chr8:90028787-90028788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374602274	chr8:90039620-90039621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538602932	chr8:90039636-90039637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140371633	chr8:90039652-90039653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572181205	chr8:90039662-90039663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542686871	chr8:90039663-90039664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189757258	chr8:90039679-90039680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145453349	chr8:90039682-90039683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1733895	chr8:90039717-90039718	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs552397279	chr8:90039745-90039746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565533899	chr8:90039764-90039765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570664317	chr8:90039789-90039790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78609858	chr8:90039790-90039791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547819079	chr8:90039800-90039801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs193064393	chr8:90039802-90039803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530250511	chr8:90039818-90039819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548240979	chr8:90039821-90039822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185303691	chr8:90039825-90039826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546593669	chr8:90039839-90039840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368075627	chr8:90039850-90039851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533931285	chr8:90039887-90039888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146475272	chr8:90039924-90039925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552149252	chr8:90039929-90039930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190295097	chr8:90039930-90039931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181788809	chr8:90039942-90039943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs184712201	chr8:90039992-90039993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140949031	chr8:90040027-90040028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187981630	chr8:90040135-90040136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536468052	chr8:90040144-90040145	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90028200-90028600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:90028400-90028800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:90028400-90028800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:90028400-90028800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:90039600-90040000	Enhancers	NH-A	brain
6	chr8:90039600-90040200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:90040200-90040800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:90040600-90041000	Enhancers	HMEC	breast
9	chr8:90040800-90041000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:90040800-90041200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:90046800-90047600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr8:90047000-90047800	Enhancers	Fetal Kidney	kidney
13	chr8:90047600-90048600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr8:90048800-90049000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr8:90049400-90053000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:90052800-90053600	Enhancers	NHDF-Ad	bronchial
17	chr8:90052800-90053800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:90052800-90055000	Enhancers	HMEC	breast
19	chr8:90053000-90053400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:90053000-90053800	Enhancers	Hela-S3	cervix
21	chr8:90053000-90053800	Enhancers	Osteobl	bone
22	chr8:90053000-90054000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:90053000-90054000	Enhancers	NH-A	brain
24	chr8:90053600-90056200	Weak transcription	NHDF-Ad	bronchial
25	chr8:90053800-90054200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:90054000-90054400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:90054200-90054600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:90054200-90055200	Enhancers	Dnd41	blood
29	chr8:90054400-90055000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:90055000-90056600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:90056600-90057600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:90057600-90060000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr8:90060000-90060200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:90060200-90083200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:90062400-90062800	Enhancers	Spleen	Spleen
36	chr8:90069800-90070200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:90070200-90071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:90071600-90071800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:90073200-90074200	Enhancers	HUVEC	blood vessel
40	chr8:90073400-90073800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:90073400-90073800	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:90084200-90084600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:90088600-90089200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr8:90093600-90093800	Enhancers	Aorta	Aorta

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