Variant report

Variant	nsv981945
Chromosome Location	chr8:61300219-61301418
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61296490..61298553-chr8:61300202..61301762,2	K562	blood:
2	chr8:61193005..61195471-chr8:61301393..61304721,3	K562	blood:
3	chr8:61300352..61302588-chr8:61303599..61306089,2	K562	blood:
4	chr8:61296490..61298553-chr8:61300202..61301849,3	K562	blood:

Variant related genes	Relation type
ENSG00000178538	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377271426	chr8:61300265-61300266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549295161	chr8:61300272-61300273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs368545728	chr8:61300290-61300291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73250102	chr8:61300307-61300308	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs185199612	chr8:61300372-61300373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546156567	chr8:61300373-61300374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73251503	chr8:61300389-61300390	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs563568815	chr8:61300390-61300391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547133582	chr8:61300430-61300431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189900172	chr8:61300467-61300468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs574247619	chr8:61300480-61300481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10957133	chr8:61300510-61300511	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs548346243	chr8:61300527-61300528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141090672	chr8:61300568-61300569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182611586	chr8:61300599-61300600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188361946	chr8:61300603-61300604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551909603	chr8:61300711-61300712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16926111	chr8:61300734-61300735	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs534613877	chr8:61300747-61300748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553126827	chr8:61300756-61300757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150200765	chr8:61300795-61300796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535539091	chr8:61300811-61300812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557060484	chr8:61300838-61300839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575353907	chr8:61300862-61300863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191555822	chr8:61300885-61300886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564333229	chr8:61300896-61300897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80007886	chr8:61300928-61300929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540618287	chr8:61300948-61300949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547255117	chr8:61300964-61300965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571795373	chr8:61300970-61300971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562258198	chr8:61300972-61300973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147876527	chr8:61301000-61301001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548287994	chr8:61301086-61301087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563345944	chr8:61301101-61301102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530537110	chr8:61301138-61301139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs371123916	chr8:61301179-61301180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570397137	chr8:61301180-61301181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141690413	chr8:61301195-61301196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546612147	chr8:61301215-61301216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567892479	chr8:61301243-61301244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535243320	chr8:61301262-61301263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556751906	chr8:61301278-61301279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374310357	chr8:61301302-61301303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575295026	chr8:61301316-61301317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539554538	chr8:61301385-61301386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4145666	chr8:61301410-61301411	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573197027	chr8:61301417-61301418	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61297000-61301000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:61298600-61300800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:61300200-61302000	Enhancers	HUVEC	blood vessel
4	chr8:61300400-61302600	Enhancers	HMEC	breast
5	chr8:61300800-61301000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:61300800-61301400	Enhancers	NHEK	skin
7	chr8:61300800-61302400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:61300800-61302800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:61301000-61301200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:61301000-61301800	Enhancers	Fetal Kidney	kidney
11	chr8:61301000-61302200	Enhancers	Brain Germinal Matrix	brain
12	chr8:61301000-61302800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:61301200-61301800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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