Variant report

Variant	nsv521313
Chromosome Location	chr10:6294804-6295548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:6293343..6295855-chr10:6296691..6299351,2	MCF-7	breast:
2	chr10:6294016..6296122-chr10:6296989..6299359,3	K562	blood:
3	chr10:6243908..6246247-chr10:6293103..6296885,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170525	chromatin interactions
ENSG00000213994	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17296393	chr10:6294804-6294805	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs11257578	chr10:6294805-6294806	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs4750181	chr10:6294848-6294849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542641180	chr10:6294885-6294886	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs544565499	chr10:6294932-6294933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs556018837	chr10:6294942-6294943	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs577643521	chr10:6294986-6294987	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368839059	chr10:6295013-6295014	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549636131	chr10:6295028-6295029	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567804095	chr10:6295040-6295041	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs531927020	chr10:6295042-6295043	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10795939	chr10:6295140-6295141	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs372430283	chr10:6295222-6295223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181019614	chr10:6295248-6295249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs111445480	chr10:6295277-6295278	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs554182836	chr10:6295343-6295344	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186354917	chr10:6295388-6295389	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs12248328	chr10:6295404-6295405	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113733357	chr10:6295407-6295408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs139193315	chr10:6295487-6295488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113162026	chr10:6295515-6295516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs10508301	chr10:6295548-6295549	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6276800-6303800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:6278600-6297600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:6278800-6295400	Weak transcription	Pancreas	Pancrea
4	chr10:6278800-6312400	Weak transcription	Thymus	Thymus
5	chr10:6279200-6303400	Weak transcription	Primary T cells from cord blood	blood
6	chr10:6281400-6309200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr10:6282200-6300200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:6285600-6297600	Weak transcription	Adipose Nuclei	Adipose
9	chr10:6285600-6297800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:6285800-6302000	Weak transcription	Primary B cells from cord blood	blood
11	chr10:6286400-6304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:6286400-6308600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr10:6286600-6297800	Weak transcription	Lung	lung
14	chr10:6289600-6298600	Weak transcription	Aorta	Aorta
15	chr10:6289600-6299800	Weak transcription	Left Ventricle	heart
16	chr10:6289600-6302000	Weak transcription	Spleen	Spleen
17	chr10:6289800-6302400	Weak transcription	Ovary	ovary
18	chr10:6290200-6296600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr10:6290400-6297200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:6290400-6308800	Weak transcription	Brain Substantia Nigra	brain
21	chr10:6290400-6309000	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:6291600-6295600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr10:6291600-6295800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr10:6294200-6297600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr10:6295400-6295600	Enhancers	Pancreas	Pancrea
26	chr10:6295400-6297400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr10:6295400-6298000	Weak transcription	Placenta Amnion	Placenta Amnion

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