Variant report

Variant	esv3520105
Chromosome Location	chr10:50204729-50207237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193031524	chr10:50204752-50204753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569880613	chr10:50204850-50204851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35766298	chr10:50204860-50204861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs536971946	chr10:50204890-50204891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2264843	chr10:50204956-50204957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs566933430	chr10:50204972-50204973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534274237	chr10:50204977-50204978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7914464	chr10:50204985-50204986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs151093581	chr10:50204986-50204987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs113688536	chr10:50204995-50204996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77667722	chr10:50205000-50205001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576529818	chr10:50205034-50205035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375039393	chr10:50205080-50205081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114182323	chr10:50205081-50205082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115148717	chr10:50205082-50205083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539236392	chr10:50205097-50205098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541430491	chr10:50205099-50205100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559627351	chr10:50205101-50205102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34199942	chr10:50205242-50205243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546141503	chr10:50205281-50205282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28818556	chr10:50205302-50205303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551557174	chr10:50205328-50205329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185719094	chr10:50205353-50205354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530578620	chr10:50205364-50205365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548868354	chr10:50205380-50205381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs189804281	chr10:50205388-50205389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181748758	chr10:50205390-50205391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184107516	chr10:50205397-50205398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546559325	chr10:50205417-50205418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201560719	chr10:50205436-50205437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188787648	chr10:50205458-50205459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548770043	chr10:50205465-50205466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562171389	chr10:50205479-50205480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571281536	chr10:50205488-50205489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368335367	chr10:50205497-50205498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538746702	chr10:50205550-50205551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556745122	chr10:50205552-50205553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576585466	chr10:50205596-50205597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181350216	chr10:50205609-50205610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556139054	chr10:50205640-50205641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376636265	chr10:50205661-50205662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7895063	chr10:50205666-50205667	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145510547	chr10:50205667-50205668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs559720642	chr10:50205678-50205679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs36006809	chr10:50205755-50205756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577925524	chr10:50205763-50205764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs140256429	chr10:50205774-50205775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563586250	chr10:50205792-50205793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530664675	chr10:50205800-50205801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372997444	chr10:50205867-50205868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50204400-50205000	Enhancers	Fetal Intestine Large	intestine
2	chr10:50204400-50205200	Enhancers	Fetal Intestine Small	intestine
3	chr10:50205000-50206600	Weak transcription	Fetal Intestine Large	intestine
4	chr10:50205200-50206200	Weak transcription	Fetal Intestine Small	intestine
5	chr10:50206200-50210400	Enhancers	Duodenum Mucosa	Duodenum
6	chr10:50206200-50211200	Enhancers	Fetal Intestine Small	intestine
7	chr10:50206600-50211000	Enhancers	Fetal Intestine Large	intestine
8	chr10:50206800-50209800	Enhancers	Stomach Mucosa	stomach

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