Variant report

Variant	esv3352297
Chromosome Location	chr10:26734355-26734490
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60347004	chr10:26734384-26734385	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs185247325	chr10:26734402-26734403	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560777989	chr10:26734409-26734410	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529502213	chr10:26734417-26734418	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201099239	chr10:26734418-26734419	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10764612	chr10:26734470-26734471	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs10764613	chr10:26734485-26734486	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:41)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26728200-26745200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr10:26728200-26757000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr10:26729200-26735400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:26730200-26738600	Weak transcription	Liver	Liver
5	chr10:26731000-26738000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:26731200-26734600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr10:26731200-26737200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:26731200-26749600	Weak transcription	Spleen	Spleen
9	chr10:26731400-26734400	Genic enhancers	Primary B cells from cord blood	blood
10	chr10:26731400-26734600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:26731400-26734600	Enhancers	Primary T cells fromperipheralblood	blood
12	chr10:26731400-26734800	Weak transcription	Adipose Nuclei	Adipose
13	chr10:26731400-26735400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:26731400-26737200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr10:26731400-26737400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr10:26731600-26734400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:26731600-26734600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:26731800-26735400	Genic enhancers	Dnd41	blood
19	chr10:26732000-26734400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr10:26732000-26737000	Genic enhancers	Fetal Thymus	thymus
21	chr10:26732600-26735800	Genic enhancers	Thymus	Thymus
22	chr10:26732600-26736000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr10:26733000-26735400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr10:26733000-26736400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr10:26733400-26734400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr10:26733400-26734600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr10:26733600-26734400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr10:26733600-26734400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:26733600-26734600	Weak transcription	Primary T cells from cord blood	blood
30	chr10:26733600-26734800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:26733600-26734800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr10:26733600-26734800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr10:26733600-26735200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:26733600-26735400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:26733600-26736400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr10:26733800-26734400	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr10:26733800-26734400	Weak transcription	GM12878-XiMat	blood
38	chr10:26734000-26734600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr10:26734200-26734800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr10:26734400-26734800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr10:26734400-26734800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr10:26734400-26735000	Flanking Active TSS	GM12878-XiMat	blood
43	chr10:26734400-26735800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
44	chr10:26734400-26735800	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
45	chr10:26734400-26736400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr10:26734400-26737400	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr10:26734400-26738200	Genic enhancers	Monocytes-CD14+_RO01746	blood

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