Variant report

Variant	nsv981891
Chromosome Location	chr8:113901858-113903687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546755815	chr8:113901875-113901876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566743507	chr8:113901907-113901908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538940921	chr8:113901919-113901920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559243913	chr8:113901929-113901930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569156650	chr8:113901950-113901951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538192396	chr8:113901951-113901952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555013712	chr8:113901988-113901989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143998281	chr8:113902038-113902039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs75062115	chr8:113902048-113902049	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553989435	chr8:113902104-113902105	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577145479	chr8:113902175-113902176	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs545767936	chr8:113902178-113902179	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs562846557	chr8:113902253-113902254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539200027	chr8:113902256-113902257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183753685	chr8:113902350-113902351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34013396	chr8:113902386-113902387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541765940	chr8:113902399-113902400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76223017	chr8:113902410-113902411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527357518	chr8:113902445-113902446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147312101	chr8:113902470-113902471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557942287	chr8:113902473-113902474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141014269	chr8:113902485-113902486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572843480	chr8:113902492-113902493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189314466	chr8:113902493-113902494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540371181	chr8:113902530-113902531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs569493791	chr8:113902561-113902562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538172787	chr8:113902583-113902584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369748950	chr8:113902599-113902600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561506725	chr8:113902607-113902608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554977100	chr8:113902620-113902621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573715520	chr8:113902690-113902691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568497077	chr8:113902720-113902721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142477184	chr8:113902739-113902740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573812471	chr8:113902793-113902794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554346364	chr8:113902875-113902876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73346012	chr8:113902881-113902882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182305334	chr8:113902917-113902918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556090827	chr8:113902936-113902937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544243968	chr8:113902954-113902955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540665050	chr8:113903009-113903010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144433758	chr8:113903030-113903031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563945845	chr8:113903098-113903099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11985714	chr8:113903152-113903153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575961393	chr8:113903196-113903197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185647391	chr8:113903226-113903227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561325088	chr8:113903282-113903283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544586502	chr8:113903309-113903310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571741578	chr8:113903336-113903337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540725722	chr8:113903380-113903381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35360881	chr8:113903482-113903483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Sezary syndrome	18413736	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
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113895400-113904800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:113896800-113905200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:113897000-113904800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr8:113897200-113904800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:113897400-113905000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:113900200-113902600	Enhancers	HMEC	breast
7	chr8:113900600-113902600	Enhancers	NHEK	skin
8	chr8:113900800-113902600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:113900800-113906400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:113901000-113902000	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:113901200-113902600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:113901600-113902000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:113902000-113902200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr8:113902200-113902600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:113903400-113903600	Enhancers	Brain Germinal Matrix	brain

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