Variant report

Variant	nsv968547
Chromosome Location	chr8:63513664-63516241
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147731589	chr8:63515021-63515022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs530293273	chr8:63515078-63515079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373781063	chr8:63515113-63515114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548783394	chr8:63515168-63515169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs76234652	chr8:63515173-63515174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537583878	chr8:63515174-63515175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559083029	chr8:63515175-63515176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551076391	chr8:63515243-63515244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570904062	chr8:63515259-63515260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs535019122	chr8:63515302-63515303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553362784	chr8:63515332-63515333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386726139	chr8:63515347-63515348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572320614	chr8:63515368-63515369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542529777	chr8:63515379-63515380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554777562	chr8:63515381-63515382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576142850	chr8:63515397-63515398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543546916	chr8:63515441-63515442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556386629	chr8:63515447-63515448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1531657	chr8:63515466-63515467	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535430012	chr8:63515486-63515487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555215181	chr8:63515513-63515514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1531658	chr8:63515522-63515523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182128150	chr8:63515537-63515538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1531659	chr8:63515609-63515610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72651572	chr8:63515640-63515641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs558893234	chr8:63515641-63515642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1531660	chr8:63515674-63515675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116342609	chr8:63515702-63515703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1531661	chr8:63515729-63515730	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs187215410	chr8:63515735-63515736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552348211	chr8:63515770-63515771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563149207	chr8:63515786-63515787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116826051	chr8:63515822-63515823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149808436	chr8:63515853-63515854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531654123	chr8:63515918-63515919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546894986	chr8:63515982-63515983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs371338111	chr8:63516019-63516020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553722861	chr8:63516023-63516024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145692424	chr8:63516066-63516067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34263462	chr8:63516078-63516079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554673689	chr8:63516089-63516090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62509499	chr8:63516096-63516097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74318548	chr8:63516098-63516099	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63515000-63518000	Enhancers	Fetal Lung	lung
2	chr8:63515600-63517000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:63515800-63516000	Enhancers	Fetal Brain Female	brain
4	chr8:63515800-63516400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:63516000-63516800	Enhancers	Fetal Stomach	stomach
6	chr8:63516000-63519200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:63516200-63516800	Weak transcription	Fetal Brain Female	brain
8	chr8:63516200-63516800	Enhancers	Fetal Kidney	kidney
9	chr8:63516200-63517000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr8:63516200-63517000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr8:63516200-63517000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr8:63516200-63517000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:63516200-63517000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr8:63516200-63517000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr8:63516200-63517000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr8:63516200-63517000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr8:63516200-63517000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:63516200-63517200	Enhancers	HUES64 Cell Line	embryonic stem cell

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