Variant report

Variant	esv2649249
Chromosome Location	chr10:1501700-1503411
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 157 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:157 , 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	rs34936958	chr10:1501726-1501727	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs557455101	chr10:1501732-1501733	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs560245261	chr10:1501751-1501752	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs55848986	chr10:1501767-1501768	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553529225	chr10:1501768-1501769	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs151192863	chr10:1501818-1501819	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs11250531	chr10:1501824-1501825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs140305306	chr10:1501846-1501847	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs530399330	chr10:1501851-1501852	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111383114	chr10:1501892-1501893	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs531511812	chr10:1501905-1501906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs186371835	chr10:1501909-1501910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs12413615	chr10:1501920-1501921	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs2820637	chr10:1501947-1501948	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371334488	chr10:1501965-1501966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191273418	chr10:1501969-1501970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs527518194	chr10:1501989-1501990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182256848	chr10:1502032-1502033	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571682291	chr10:1502033-1502034	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146997765	chr10:1502037-1502038	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551056605	chr10:1502055-1502056	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12416537	chr10:1502063-1502064	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536741544	chr10:1502070-1502071	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184969058	chr10:1502076-1502077	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573080758	chr10:1502077-1502078	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191003572	chr10:1502129-1502130	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200535536	chr10:1502134-1502135	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2999400	chr10:1502136-1502137	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574905082	chr10:1502137-1502138	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61834367	chr10:1502139-1502140	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs61834368	chr10:1502142-1502143	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201254865	chr10:1502169-1502170	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2944605	chr10:1502173-1502174	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2813423	chr10:1502174-1502175	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3122600	chr10:1502176-1502177	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113642350	chr10:1502193-1502194	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61834369	chr10:1502204-1502205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375763063	chr10:1502208-1502209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2813422	chr10:1502210-1502211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2676718	chr10:1502238-1502239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61834370	chr10:1502242-1502243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71500104	chr10:1502244-1502245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112821674	chr10:1502261-1502262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532311033	chr10:1502268-1502269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs71500105	chr10:1502272-1502273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71500106	chr10:1502278-1502279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552508335	chr10:1502305-1502306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71500107	chr10:1502306-1502307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71500108	chr10:1502309-1502310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71500109	chr10:1502312-1502313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	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
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
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	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
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1493800-1504400	Weak transcription	Esophagus	oesophagus
2	chr10:1500400-1503000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr10:1500400-1503200	Weak transcription	Dnd41	blood
4	chr10:1500800-1502000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:1501000-1503200	Weak transcription	Primary B cells from cord blood	blood
6	chr10:1501400-1501800	Active TSS	Spleen	Spleen
7	chr10:1501400-1502000	Enhancers	Gastric	stomach
8	chr10:1501800-1502000	Flanking Active TSS	Spleen	Spleen
9	chr10:1502000-1502200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:1502000-1502200	Enhancers	Spleen	Spleen
11	chr10:1502000-1506200	Weak transcription	Gastric	stomach
12	chr10:1502200-1504600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr10:1502200-1509000	Weak transcription	Spleen	Spleen
14	chr10:1503000-1506400	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:1503200-1503800	Enhancers	Dnd41	blood
16	chr10:1503200-1506600	Enhancers	Primary B cells from cord blood	blood
17	chr10:1503400-1503600	Enhancers	Brain Germinal Matrix	brain

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