Variant report

Variant	esv3409338
Chromosome Location	chr10:19857296-19859894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549673327	chr10:19857298-19857299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201555925	chr10:19857300-19857301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550140925	chr10:19857301-19857302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185267514	chr10:19857306-19857307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535242130	chr10:19857312-19857313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190163892	chr10:19857458-19857459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181426124	chr10:19857470-19857471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372862974	chr10:19857478-19857479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186514701	chr10:19857483-19857484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116281138	chr10:19857490-19857491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557311845	chr10:19857491-19857492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575968163	chr10:19857493-19857494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543305345	chr10:19857496-19857497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566683504	chr10:19857546-19857547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573784333	chr10:19857564-19857565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540827659	chr10:19857580-19857581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190052778	chr10:19857599-19857600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527757680	chr10:19857618-19857619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201539313	chr10:19857619-19857620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369382186	chr10:19857620-19857621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564457076	chr10:19857623-19857624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185170254	chr10:19857733-19857734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550443666	chr10:19857814-19857815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567681870	chr10:19857835-19857836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191116051	chr10:19857837-19857838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145602604	chr10:19857850-19857851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148906918	chr10:19857876-19857877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556658528	chr10:19857945-19857946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547637776	chr10:19857965-19857966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs183965513	chr10:19857979-19857980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539134134	chr10:19857986-19857987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551004601	chr10:19858012-19858013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117134086	chr10:19858019-19858020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188512216	chr10:19858044-19858045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538791592	chr10:19858046-19858047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191800169	chr10:19858069-19858070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118024967	chr10:19858083-19858084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11010400	chr10:19858087-19858088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372058283	chr10:19858143-19858144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10437421	chr10:19858171-19858172	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546309028	chr10:19858229-19858230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10740921	chr10:19858231-19858232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs576506544	chr10:19858249-19858250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542928141	chr10:19858262-19858263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543410914	chr10:19858264-19858265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562417875	chr10:19858276-19858277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554244641	chr10:19858286-19858287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529529987	chr10:19858290-19858291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72780163	chr10:19858326-19858327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs543140256	chr10:19858356-19858357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
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
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19839800-19875400	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19851600-19858800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr10:19853000-19866400	Weak transcription	Aorta	Aorta
4	chr10:19857200-19861800	Weak transcription	Fetal Intestine Large	intestine
5	chr10:19858800-19859000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:19859000-19859200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:19859000-19859200	Enhancers	Duodenum Mucosa	Duodenum
8	chr10:19859000-19859400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr10:19859000-19859400	Enhancers	Adipose Nuclei	Adipose
10	chr10:19859000-19861800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:19859200-19859400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:19859200-19884200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:19859400-19859600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:19859400-19859600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr10:19859400-19860200	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr10:19859600-19860800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:19859600-19861800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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