Variant report

Variant	esv3420350
Chromosome Location	chr10:57341646-57346044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:57342122..57342664-chr13:103425291..103426132,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000151287	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540849562	chr10:57341675-57341676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550199254	chr10:57341677-57341678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35522511	chr10:57341694-57341695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs553946121	chr10:57341695-57341696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576939811	chr10:57341706-57341707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545750060	chr10:57341718-57341719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115057486	chr10:57341743-57341744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531638727	chr10:57341784-57341785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531276834	chr10:57341836-57341837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541746276	chr10:57341838-57341839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373521506	chr10:57341890-57341891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527469489	chr10:57341935-57341936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547586712	chr10:57341941-57341942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570524115	chr10:57341955-57341956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551408395	chr10:57341956-57341957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533064875	chr10:57341974-57341975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10825549	chr10:57342154-57342155	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535477009	chr10:57342165-57342166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74736929	chr10:57342252-57342253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113839762	chr10:57342280-57342281	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs534096854	chr10:57342282-57342283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71463106	chr10:57342357-57342358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs58767643	chr10:57342382-57342383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs201430994	chr10:57342384-57342385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199508038	chr10:57342386-57342387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs56817323	chr10:57342388-57342389	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12761823	chr10:57342390-57342391	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71017104	chr10:57342394-57342395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs535616091	chr10:57342476-57342477	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs190464876	chr10:57342478-57342479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545887523	chr10:57342529-57342530	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs146897757	chr10:57342664-57342665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Obesity	21956041	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57341600-57342000	Enhancers	Gastric	stomach

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