Variant report

Variant	esv3339409
Chromosome Location	chr10:56783296-56784744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566108719	chr10:56783305-56783306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199565668	chr10:56783308-56783309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555021294	chr10:56783321-56783322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs117178061	chr10:56783334-56783335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551770304	chr10:56783336-56783337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568581324	chr10:56783434-56783435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575674917	chr10:56783486-56783487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10529175	chr10:56783516-56783517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71461267	chr10:56783517-56783518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs398114359	chr10:56783521-56783522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs202050684	chr10:56783557-56783558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs202124478	chr10:56783564-56783565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537946235	chr10:56783572-56783573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564415742	chr10:56783583-56783584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143032236	chr10:56783608-56783609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548281627	chr10:56783626-56783627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71461268	chr10:56783647-56783648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199609637	chr10:56783650-56783651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113905931	chr10:56783654-56783655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557231092	chr10:56783686-56783687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202044942	chr10:56783751-56783752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377198839	chr10:56783783-56783784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574215029	chr10:56783790-56783791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375638940	chr10:56783792-56783793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536525730	chr10:56783794-56783795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202063120	chr10:56783834-56783835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368222739	chr10:56783835-56783836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373895204	chr10:56783883-56783884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553665780	chr10:56783896-56783897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141886785	chr10:56783914-56783915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545396264	chr10:56783938-56783939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565283442	chr10:56783943-56783944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575768725	chr10:56783954-56783955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2891554	chr10:56784030-56784031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577802924	chr10:56784046-56784047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145539459	chr10:56784068-56784069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4007191	chr10:56784074-56784075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35363473	chr10:56784075-56784076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199966947	chr10:56784082-56784083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77741483	chr10:56784087-56784088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs397818104	chr10:56784088-56784089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35042447	chr10:56784089-56784090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28579100	chr10:56784121-56784122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs10566939	chr10:56784215-56784216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs66648239	chr10:56784216-56784217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs11004682	chr10:56784218-56784219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs200150105	chr10:56784222-56784223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10825439	chr10:56784224-56784225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201094641	chr10:56784232-56784233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs72197261	chr10:56784233-56784234	Weak transcription Enhancers	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
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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
small cell lung cancer	17426248	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:56779600-56784600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:56780400-56784400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr10:56780600-56784200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr10:56784200-56785200	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr10:56784400-56785000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr10:56784400-56785000	Enhancers	Brain Cingulate Gyrus	brain
7	chr10:56784400-56785000	Enhancers	Fetal Heart	heart
8	chr10:56784400-56785200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:56784600-56785200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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