Variant report

Variant	nsv516026
Chromosome Location	chr10:6639501-6639986
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	chr10:6637758..6639916-chr10:6710958..6712472,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11253578	chr10:6639501-6639502	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371137198	chr10:6639512-6639513	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535806549	chr10:6639524-6639525	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs557063303	chr10:6639526-6639527	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575620028	chr10:6639556-6639557	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200233371	chr10:6639598-6639599	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs377401364	chr10:6639602-6639603	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs201361374	chr10:6639604-6639605	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557869792	chr10:6639605-6639606	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs577737712	chr10:6639606-6639607	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540433315	chr10:6639608-6639609	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562381030	chr10:6639610-6639611	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574270874	chr10:6639612-6639613	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112126920	chr10:6639615-6639616	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562324638	chr10:6639702-6639703	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532992305	chr10:6639719-6639720	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181539717	chr10:6639737-6639738	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527487785	chr10:6639794-6639795	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560290735	chr10:6639817-6639818	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1327688	chr10:6639845-6639846	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1327687	chr10:6639847-6639848	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527452865	chr10:6639877-6639878	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549213670	chr10:6639899-6639900	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1268331	chr10:6639986-6639987	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:60)

Disease	PMID	Source
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6626200-6643400	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:6626200-6645200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:6628000-6644600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr10:6628800-6644600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr10:6631200-6644800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr10:6632000-6645000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr10:6632000-6645200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:6633400-6645000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr10:6634600-6642200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr10:6635400-6641400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr10:6635400-6642200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:6635600-6640800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr10:6635600-6641600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:6635800-6642000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:6636600-6642200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:6636600-6645400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:6636600-6648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:6636800-6642000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:6636800-6644600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr10:6637800-6642000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr10:6637800-6642000	Weak transcription	Fetal Thymus	thymus
22	chr10:6637800-6642000	Weak transcription	Thymus	Thymus
23	chr10:6637800-6642200	Weak transcription	Brain Substantia Nigra	brain
24	chr10:6637800-6643600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr10:6638000-6639600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr10:6638000-6639600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr10:6638000-6642200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr10:6638000-6643600	Weak transcription	Brain Hippocampus Middle	brain
29	chr10:6638000-6644600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr10:6638200-6642200	Enhancers	Primary T cells from cord blood	blood
31	chr10:6639000-6642200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:6639200-6639800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr10:6639200-6640000	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr10:6639400-6640800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr10:6639400-6640800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr10:6639600-6640000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr10:6639600-6641600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr10:6639800-6641600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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