Variant report

Variant	esv3325728
Chromosome Location	chr8:86902586-86904684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86901113..86903216-chr8:86904279..86907196,2	K562	blood:
2	chr8:86904549..86906712-chr8:86921070..86923014,2	MCF-7	breast:
3	chr8:86896626..86899608-chr8:86904301..86907878,3	MCF-7	breast:
4	chr8:86903344..86906241-chr8:86909054..86912607,3	K562	blood:

Variant related genes	Relation type
ENSG00000253154	chromatin interactions

Extended variants
information (count: 61 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116128720	chr8:86902602-86902603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143539544	chr8:86902700-86902701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150076917	chr8:86902721-86902722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77597895	chr8:86902742-86902743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373714347	chr8:86902777-86902778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188101092	chr8:86902846-86902847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571003735	chr8:86902903-86902904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62512076	chr8:86903048-86903049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs182472995	chr8:86903091-86903092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199679240	chr8:86903095-86903096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556611362	chr8:86903096-86903097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532621893	chr8:86903097-86903098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149638406	chr8:86903137-86903138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542201462	chr8:86903168-86903169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77690022	chr8:86903174-86903175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572338264	chr8:86903188-86903189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11780265	chr8:86903221-86903222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34558809	chr8:86903229-86903230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11781618	chr8:86903230-86903231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564267850	chr8:86903251-86903252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533138502	chr8:86903253-86903254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559863451	chr8:86903273-86903274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190561268	chr8:86903333-86903334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200792795	chr8:86903518-86903519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572317788	chr8:86903520-86903521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201770051	chr8:86903522-86903523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59940333	chr8:86903524-86903525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs67293676	chr8:86903525-86903526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371534572	chr8:86903558-86903559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185847313	chr8:86903617-86903618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557404069	chr8:86903619-86903620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548535756	chr8:86903637-86903638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565319491	chr8:86903692-86903693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374471569	chr8:86903693-86903694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528104207	chr8:86903752-86903753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548067234	chr8:86903788-86903789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62512077	chr8:86903805-86903806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571098505	chr8:86903806-86903807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140118777	chr8:86903824-86903825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142117709	chr8:86903829-86903830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567247016	chr8:86903838-86903839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570138987	chr8:86903844-86903845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62512078	chr8:86903899-86903900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555922730	chr8:86903924-86903925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572466116	chr8:86904014-86904015	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs190275089	chr8:86904019-86904020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs537036899	chr8:86904035-86904036	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs139580732	chr8:86904122-86904123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs557989336	chr8:86904159-86904160	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs377221010	chr8:86904207-86904208	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
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
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86876400-86904000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:86902400-86902600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:86904000-86905000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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