Variant report

Variant	esv3373151
Chromosome Location	chr10:26833696-26835794
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190492842	chr10:26833704-26833705	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
2	rs145281804	chr10:26833801-26833802	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
3	rs539716195	chr10:26833839-26833840	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
4	rs572341621	chr10:26833851-26833852	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
5	rs556287027	chr10:26833855-26833856	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs569993940	chr10:26833976-26833977	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs563806177	chr10:26833985-26833986	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs535617603	chr10:26834032-26834033	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376639975	chr10:26834148-26834149	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs113403858	chr10:26834149-26834150	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs572301111	chr10:26834162-26834163	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs541214743	chr10:26834165-26834166	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557947257	chr10:26834184-26834185	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs578013426	chr10:26834201-26834202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543652892	chr10:26834275-26834276	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531270658	chr10:26834301-26834302	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563145602	chr10:26834302-26834303	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528871487	chr10:26834357-26834358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542404965	chr10:26834411-26834412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183522832	chr10:26834414-26834415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528141140	chr10:26834425-26834426	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570357897	chr10:26834519-26834520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188184163	chr10:26834602-26834603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533455584	chr10:26834628-26834629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17558142	chr10:26834667-26834668	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571003302	chr10:26834688-26834689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77197374	chr10:26834695-26834696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs787042	chr10:26834699-26834700	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540110601	chr10:26834707-26834708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535822716	chr10:26834710-26834711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556606945	chr10:26834711-26834712	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200523184	chr10:26834712-26834713	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566191462	chr10:26834715-26834716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12782091	chr10:26834716-26834717	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71403805	chr10:26834721-26834722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76767356	chr10:26834722-26834723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557985767	chr10:26834731-26834732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371232791	chr10:26834794-26834795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549273846	chr10:26834800-26834801	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145008690	chr10:26834801-26834802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186827807	chr10:26834810-26834811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375159281	chr10:26834861-26834862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555317191	chr10:26834907-26834908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191294182	chr10:26834950-26834951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75147623	chr10:26834965-26834966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs16927105	chr10:26834973-26834974	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs143119235	chr10:26834978-26834979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544665579	chr10:26835003-26835004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564380700	chr10:26835032-26835033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537758860	chr10:26835052-26835053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26780200-26834000	Strong transcription	Dnd41	blood
2	chr10:26780400-26837600	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr10:26781000-26837400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr10:26793200-26843200	Strong transcription	Fetal Thymus	thymus
5	chr10:26802200-26839800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:26802200-26853400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr10:26809200-26834600	Strong transcription	Primary B cells from cord blood	blood
8	chr10:26809200-26844000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr10:26813800-26837800	Strong transcription	Primary T helper cells PMA-I stimulated	--
10	chr10:26814800-26837000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr10:26819600-26837000	Weak transcription	Right Atrium	heart
12	chr10:26820600-26834400	Strong transcription	Thymus	Thymus
13	chr10:26820600-26844600	Weak transcription	Pancreas	Pancrea
14	chr10:26823800-26840000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:26825400-26840800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:26826600-26836000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr10:26827200-26839600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:26828000-26836800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr10:26828800-26835600	Strong transcription	Primary T cells from cord blood	blood
20	chr10:26830000-26845000	Strong transcription	Primary hematopoietic stem cells	blood
21	chr10:26830400-26838000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr10:26830800-26834200	Strong transcription	Liver	Liver
23	chr10:26830800-26835200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr10:26831000-26844600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr10:26831200-26834000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
26	chr10:26832000-26833800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr10:26832200-26839800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:26832200-26839800	Weak transcription	Lung	lung
29	chr10:26832200-26839800	Weak transcription	Spleen	Spleen
30	chr10:26832400-26834000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr10:26832600-26834000	Genic enhancers	Primary B cells from peripheral blood	blood
32	chr10:26832600-26834000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
33	chr10:26832800-26834200	Genic enhancers	Monocytes-CD14+_RO01746	blood
34	chr10:26833000-26834000	Genic enhancers	Primary monocytes fromperipheralblood	blood
35	chr10:26833000-26834000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:26833000-26834200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr10:26833200-26837400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr10:26833400-26834000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr10:26833400-26834000	Genic enhancers	Adipose Nuclei	Adipose
40	chr10:26833400-26836200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:26833600-26834000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:26833600-26834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:26833600-26839800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr10:26833800-26835800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr10:26834000-26834200	Flanking Active TSS	GM12878-XiMat	blood
46	chr10:26834000-26834400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:26834000-26834800	Weak transcription	Dnd41	blood
48	chr10:26834000-26836800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr10:26834000-26837200	Strong transcription	Primary B cells from peripheral blood	blood
50	chr10:26834000-26837600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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