Variant report

Variant	nsv967539
Chromosome Location	chr8:107123687-107134580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107131917..107134128-chr8:107281997..107284179,2	K562	blood:
2	chr8:107121849..107124816-chr8:107130170..107132408,2	K562	blood:
3	chr8:107125049..107127217-chr8:107139054..107140794,2	K562	blood:
4	chr8:107121849..107124816-chr8:107130170..107132408,2	K562	blood:

Variant related genes	Relation type
ENSG00000254615	chromatin interactions
ENSG00000164830	chromatin interactions

Extended variants
information (count: 478 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562431556	chr8:107123712-107123713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548215778	chr8:107123719-107123720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138513642	chr8:107123746-107123747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527759790	chr8:107123759-107123760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140296916	chr8:107123791-107123792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570696539	chr8:107123827-107123828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537625890	chr8:107123871-107123872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550086839	chr8:107123878-107123879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374310442	chr8:107123885-107123886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568222012	chr8:107123940-107123941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535444503	chr8:107123942-107123943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553319437	chr8:107124020-107124021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191046795	chr8:107124068-107124069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143489450	chr8:107124090-107124091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557416628	chr8:107124095-107124096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537770347	chr8:107124194-107124195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183218962	chr8:107124236-107124237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185190790	chr8:107124288-107124289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556817977	chr8:107124294-107124295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189708605	chr8:107124327-107124328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs542222490	chr8:107124338-107124339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560482943	chr8:107124392-107124393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs148147001	chr8:107124399-107124400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546351762	chr8:107124404-107124405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564559823	chr8:107124407-107124408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183433852	chr8:107124423-107124424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549671865	chr8:107124432-107124433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568361707	chr8:107124449-107124450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377266173	chr8:107124489-107124490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141942540	chr8:107124530-107124531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577408123	chr8:107124558-107124559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150702845	chr8:107124570-107124571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187584437	chr8:107124587-107124588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565372354	chr8:107124644-107124645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111564925	chr8:107124660-107124661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575939203	chr8:107124662-107124663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs193173627	chr8:107124663-107124664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201254020	chr8:107124693-107124694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538441688	chr8:107124718-107124719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199567086	chr8:107124737-107124738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200575933	chr8:107124748-107124749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374465750	chr8:107124756-107124757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183325225	chr8:107124767-107124768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138948487	chr8:107124768-107124769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542566326	chr8:107124785-107124786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113523464	chr8:107124789-107124790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554487631	chr8:107124800-107124801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573011443	chr8:107124804-107124805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572510562	chr8:107124808-107124809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188581965	chr8:107124812-107124813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	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
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
small cell lung cancer	20016488	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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107122600-107129800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:107123200-107124600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:107123400-107124000	Enhancers	NH-A	brain
4	chr8:107123600-107140400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:107129800-107130000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:107129800-107130000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:107129800-107130000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:107130000-107140000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:107134400-107135600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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