Variant report

Variant	esv3385978
Chromosome Location	chr8:116192276-116197274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:116190725..116192914-chr8:116198284..116200263,2	MCF-7	breast:
2	chr8:116197006..116199326-chr8:116204502..116206471,3	MCF-7	breast:
3	chr8:116197204..116199535-chr8:116202002..116204083,2	MCF-7	breast:
4	chr8:116197091..116200038-chr8:116201920..116204912,2	MCF-7	breast:
5	chr8:116189123..116190832-chr8:116191292..116193728,2	K562	blood:

Extended variants
information (count: 151 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575025404	chr8:116192302-116192303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58132283	chr8:116192338-116192339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs565094286	chr8:116192360-116192361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548713883	chr8:116192361-116192362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527467376	chr8:116192373-116192374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573253162	chr8:116192485-116192486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534246279	chr8:116192604-116192605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138380078	chr8:116192607-116192608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546127104	chr8:116192639-116192640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191468784	chr8:116192695-116192696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35960554	chr8:116192708-116192709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547686178	chr8:116192715-116192716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146276605	chr8:116192754-116192755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57131093	chr8:116192760-116192761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536280757	chr8:116192764-116192765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57918191	chr8:116192945-116192946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562757976	chr8:116192957-116192958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372993605	chr8:116192966-116192967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577850307	chr8:116192968-116192969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117827904	chr8:116192971-116192972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200650731	chr8:116192974-116192975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563883085	chr8:116193023-116193024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528062614	chr8:116193026-116193027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183321947	chr8:116193139-116193140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561789457	chr8:116193156-116193157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187814271	chr8:116193252-116193253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550469667	chr8:116193269-116193270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545856649	chr8:116193284-116193285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559515015	chr8:116193314-116193315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377395178	chr8:116193382-116193383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78772248	chr8:116193385-116193386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567011677	chr8:116193400-116193401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533900633	chr8:116193427-116193428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555753496	chr8:116193443-116193444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74355500	chr8:116193529-116193530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149231882	chr8:116193546-116193547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116344315	chr8:116193630-116193631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143449114	chr8:116193635-116193636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191433527	chr8:116193641-116193642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563795163	chr8:116193655-116193656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182469431	chr8:116193789-116193790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147997871	chr8:116193869-116193870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77101423	chr8:116193951-116193952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372704744	chr8:116194010-116194011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550874081	chr8:116194027-116194028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562819465	chr8:116194038-116194039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73703169	chr8:116194058-116194059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114805485	chr8:116194076-116194077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533358885	chr8:116194153-116194154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141692860	chr8:116194163-116194164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	20164920	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116185400-116195800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:116185600-116197400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:116190800-116197400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:116195800-116196200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:116195800-116196800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:116195800-116197800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr8:116196000-116196800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr8:116196000-116197200	Enhancers	GM12878-XiMat	blood
9	chr8:116196600-116197000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr8:116196800-116197600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr8:116196800-116197800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:116196800-116201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:116196800-116215200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:116197000-116201600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:116197200-116197600	Enhancers	HMEC	breast
16	chr8:116197200-116197800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:116197200-116198200	Flanking Active TSS	GM12878-XiMat	blood

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