Variant report

Variant	esv3405995
Chromosome Location	chr8:102816276-102817624
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102814250..102816646-chr8:102818244..102821073,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113003764	chr8:102816278-102816279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553674427	chr8:102816442-102816443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11786490	chr8:102816519-102816520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571883677	chr8:102816545-102816546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199609580	chr8:102816565-102816566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556613877	chr8:102816566-102816567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201946294	chr8:102816592-102816593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200230044	chr8:102816594-102816595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201736761	chr8:102816596-102816597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59006568	chr8:102816605-102816606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553717867	chr8:102816643-102816644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572182606	chr8:102816660-102816661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189915339	chr8:102816671-102816672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545796293	chr8:102816674-102816675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564333642	chr8:102816701-102816702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199683680	chr8:102816714-102816715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544665066	chr8:102816717-102816718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557566874	chr8:102816722-102816723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111735245	chr8:102816773-102816774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576131496	chr8:102816774-102816775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192014684	chr8:102816780-102816781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555348820	chr8:102816801-102816802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62517308	chr8:102816808-102816809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540251095	chr8:102816838-102816839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs36195599	chr8:102816865-102816866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540950741	chr8:102816895-102816896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559191133	chr8:102816905-102816906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs202061075	chr8:102816921-102816922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139897647	chr8:102816922-102816923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs386413502	chr8:102816924-102816925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10638187	chr8:102816927-102816928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200963188	chr8:102816928-102816929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201619134	chr8:102816929-102816930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200189878	chr8:102816934-102816935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373652154	chr8:102816968-102816969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189276627	chr8:102817028-102817029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563334754	chr8:102817029-102817030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180907509	chr8:102817085-102817086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549169492	chr8:102817091-102817092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111701806	chr8:102817093-102817094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528458826	chr8:102817094-102817095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185947220	chr8:102817112-102817113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2155943	chr8:102817114-102817115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs142598835	chr8:102817149-102817150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76463006	chr8:102817166-102817167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113347351	chr8:102817207-102817208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112085820	chr8:102817208-102817209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541721928	chr8:102817268-102817269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78003798	chr8:102817279-102817280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs72676134	chr8:102817296-102817297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
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
Multiple myeloma	16461302	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
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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	22495309	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102803200-102817800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:102803600-102870600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:102816400-102817600	Weak transcription	Ovary	ovary
4	chr8:102816800-102818800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:102817600-102817800	ZNF genes & repeats	Ovary	ovary

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