Variant report

Variant	nsv525808
Chromosome Location	chr8:112579771-112616415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572809320	chr8:112593605-112593606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73329965	chr8:112593651-112593652	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558448219	chr8:112593667-112593668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187424609	chr8:112593668-112593669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189297209	chr8:112593672-112593673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563418982	chr8:112593674-112593675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12541903	chr8:112593681-112593682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542448918	chr8:112593708-112593709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559113387	chr8:112593710-112593711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180975421	chr8:112593746-112593747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544904448	chr8:112593749-112593750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564796555	chr8:112593771-112593772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77467730	chr8:112597018-112597019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573285670	chr8:112597027-112597028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111519293	chr8:112597034-112597035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558803497	chr8:112597040-112597041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575669122	chr8:112597048-112597049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544510743	chr8:112597090-112597091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567580993	chr8:112597126-112597127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192989255	chr8:112597213-112597214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140943423	chr8:112597237-112597238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545015679	chr8:112597280-112597281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538026576	chr8:112597301-112597302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150185301	chr8:112597314-112597315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560371929	chr8:112597336-112597337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76234602	chr8:112597342-112597343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552129395	chr8:112597350-112597351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565146058	chr8:112597352-112597353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568894270	chr8:112597368-112597369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141069010	chr8:112597370-112597371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144820813	chr8:112597397-112597398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs547587427	chr8:112597398-112597399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138664839	chr8:112597433-112597434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533936526	chr8:112597443-112597444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554121881	chr8:112597444-112597445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369929792	chr8:112597550-112597551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7013456	chr8:112597601-112597602	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs558892575	chr8:112597699-112597700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs575690331	chr8:112597712-112597713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544689137	chr8:112597713-112597714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554595136	chr8:112597732-112597733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574700963	chr8:112597755-112597756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540400839	chr8:112597797-112597798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34597469	chr8:112597802-112597803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538740264	chr8:112597808-112597809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185228871	chr8:112597836-112597837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141667514	chr8:112597866-112597867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562503767	chr8:112597880-112597881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs531164828	chr8:112597881-112597882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189443049	chr8:112597898-112597899	Enhancers	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
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
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112593600-112593800	Enhancers	Pancreas	Pancrea
2	chr8:112597000-112598400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:112611000-112611800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr8:112611400-112612000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:112611600-112611800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:112611600-112612200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:112611800-112612000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr8:112611800-112612800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
9	chr8:112615400-112615800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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