Variant report

Variant	esv3443811
Chromosome Location	chr10:52884846-52887119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 64 )

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	rs139846858	chr10:52884887-52884888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149688287	chr10:52884890-52884891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190024785	chr10:52885003-52885004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75315529	chr10:52885009-52885010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373188686	chr10:52885028-52885029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563453700	chr10:52885050-52885051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181098027	chr10:52885067-52885068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543102083	chr10:52885070-52885071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559447296	chr10:52885091-52885092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186151667	chr10:52885109-52885110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551326173	chr10:52885132-52885133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564960292	chr10:52885156-52885157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145527048	chr10:52885165-52885166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551030853	chr10:52885216-52885217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567844862	chr10:52885220-52885221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536474896	chr10:52885310-52885311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549084901	chr10:52885421-52885422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560452656	chr10:52885441-52885442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113369894	chr10:52885455-52885456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs565748439	chr10:52885475-52885476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200564272	chr10:52885484-52885485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534731511	chr10:52885493-52885494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34815453	chr10:52885619-52885620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9414825	chr10:52885740-52885741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180809435	chr10:52885821-52885822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111218070	chr10:52885848-52885849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564576259	chr10:52885864-52885865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12770123	chr10:52885891-52885892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9415726	chr10:52885916-52885917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111218084	chr10:52885938-52885939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12765295	chr10:52885996-52885997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200896693	chr10:52886002-52886003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190864472	chr10:52886027-52886028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183062159	chr10:52886033-52886034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537340827	chr10:52886041-52886042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557018980	chr10:52886043-52886044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9415727	chr10:52886136-52886137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12098577	chr10:52886160-52886161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117015926	chr10:52886235-52886236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559136385	chr10:52886240-52886241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372044807	chr10:52886304-52886305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572973433	chr10:52886316-52886317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191448948	chr10:52886385-52886386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376329176	chr10:52886405-52886406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182823310	chr10:52886458-52886459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149190657	chr10:52886476-52886477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551235444	chr10:52886485-52886486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561460372	chr10:52886489-52886490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530440850	chr10:52886491-52886492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547189593	chr10:52886526-52886527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52876800-52900400	Weak transcription	Left Ventricle	heart
2	chr10:52877600-52889600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:52878600-52899200	Weak transcription	Aorta	Aorta
4	chr10:52879400-52889600	Weak transcription	NHLF	lung
5	chr10:52883800-52896000	Weak transcription	Psoas Muscle	Psoas
6	chr10:52884400-52885000	Enhancers	Stomach Mucosa	stomach
7	chr10:52884800-52885000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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