Variant report

Variant	nsv611420
Chromosome Location	chr8:60989109-61005850
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	chr8:60999306..61001965-chr8:61002281..61004182,2	MCF-7	breast:
2	chr8:60999306..61001965-chr8:61002281..61004182,2	MCF-7	breast:

Extended variants
information (count: 165 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs570432056	chr8:60994620-60994621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs182879009	chr8:60994629-60994630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199653477	chr8:60994648-60994649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527520032	chr8:60994656-60994657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1850971	chr8:60994679-60994680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372218803	chr8:60994689-60994690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561214026	chr8:60994700-60994701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375197163	chr8:60994707-60994708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531627184	chr8:60994737-60994738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543904404	chr8:60994747-60994748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187641985	chr8:60994762-60994763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532502272	chr8:60994786-60994787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557139118	chr8:60994789-60994790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369668300	chr8:60994802-60994803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543031341	chr8:60994867-60994868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560132163	chr8:60994966-60994967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547608515	chr8:60995009-60995010	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs565813586	chr8:60995015-60995016	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs139973221	chr8:60995074-60995075	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs554730000	chr8:60995081-60995082	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs569871422	chr8:60995088-60995089	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs528793975	chr8:60995098-60995099	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs545332043	chr8:60995130-60995131	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs565486199	chr8:60995141-60995142	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs577582747	chr8:60995151-60995152	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs530978239	chr8:60995154-60995155	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs544975428	chr8:60995160-60995161	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs373098069	chr8:60995209-60995210	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs553940134	chr8:60995222-60995223	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs192501861	chr8:60995271-60995272	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs542884409	chr8:60995308-60995309	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs10094847	chr8:60995334-60995335	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113968717	chr8:60995335-60995336	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs531489781	chr8:60995344-60995345	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs185058543	chr8:60995359-60995360	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs565170540	chr8:60995389-60995390	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs115858764	chr8:60995494-60995495	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs567000058	chr8:60995495-60995496	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs547767307	chr8:60995516-60995517	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs535727585	chr8:60995546-60995547	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs375444671	chr8:60995553-60995554	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs115298751	chr8:61001255-61001256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561077188	chr8:61001265-61001266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs187806632	chr8:61001290-61001291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543313222	chr8:61001323-61001324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs71523394	chr8:61001343-61001344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564958369	chr8:61001433-61001434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532336431	chr8:61001469-61001470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151119747	chr8:61001495-61001496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559398445	chr8:61001496-61001497	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Salivary gland tumor	18059337	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60994600-60995600	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:60994800-60995600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr8:60995000-60995600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr8:61001200-61001600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr8:61001600-61002600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:61002600-61002800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:61002600-61002800	Enhancers	Colon Smooth Muscle	Colon
8	chr8:61002800-61003400	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:61003200-61004800	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:61003400-61004400	Enhancers	Colon Smooth Muscle	Colon

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