Variant report

Variant	esv3399534
Chromosome Location	chr10:53783346-53787744
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	chr10:53780868..53783785-chr10:53785696..53788310,2	K562	blood:
2	chr10:53780868..53783785-chr10:53785696..53788310,2	K562	blood:

Extended variants
information (count: 183 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:183 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71533113	chr10:53783444-53783445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs577080821	chr10:53783484-53783485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74321112	chr10:53783502-53783503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12359611	chr10:53783503-53783504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs75200209	chr10:53783533-53783534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11000495	chr10:53783556-53783557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542293947	chr10:53783559-53783560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76471570	chr10:53783585-53783586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149211739	chr10:53783598-53783599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75011304	chr10:53783600-53783601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76139380	chr10:53783601-53783602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187713527	chr10:53783608-53783609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192178998	chr10:53783609-53783610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182942740	chr10:53783627-53783628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188051748	chr10:53783634-53783635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146912907	chr10:53783643-53783644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139363228	chr10:53783700-53783701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531251082	chr10:53783722-53783723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10823974	chr10:53783725-53783726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147037507	chr10:53783730-53783731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533894795	chr10:53783732-53783733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374178551	chr10:53783739-53783740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11000496	chr10:53783775-53783776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539722233	chr10:53783785-53783786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141913544	chr10:53783789-53783790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576373924	chr10:53783858-53783859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538590463	chr10:53783888-53783889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535525577	chr10:53783899-53783900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4309108	chr10:53783900-53783901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572415744	chr10:53783935-53783936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541537118	chr10:53783962-53783963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10740410	chr10:53783969-53783970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139585651	chr10:53783990-53783991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4517464	chr10:53783998-53783999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs114158570	chr10:53784042-53784043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192885597	chr10:53784058-53784059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202057199	chr10:53784059-53784060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117716940	chr10:53784063-53784064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201621834	chr10:53784076-53784077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111596051	chr10:53784077-53784078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140237388	chr10:53784079-53784080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61709879	chr10:53784081-53784082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71032615	chr10:53784087-53784088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201022891	chr10:53784092-53784093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527366123	chr10:53784105-53784106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566655595	chr10:53784169-53784170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11819075	chr10:53784170-53784171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs570695449	chr10:53784221-53784222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539685372	chr10:53784230-53784231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550057549	chr10:53784231-53784232	Weak transcription	n/a	n/a	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
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	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

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53779000-53790800	Weak transcription	Right Atrium	heart
2	chr10:53780200-53797800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr10:53781000-53787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr10:53781000-53789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:53781000-53792200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:53781200-53790200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr10:53783200-53786000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr10:53784600-53786600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr10:53786000-53786200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
10	chr10:53786000-53786200	Enhancers	Rectal Smooth Muscle	rectum
11	chr10:53786000-53786800	Enhancers	Fetal Lung	lung
12	chr10:53786000-53787400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:53786200-53786800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:53786200-53786800	Enhancers	NHLF	lung
15	chr10:53786200-53788200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr10:53786400-53786600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:53786600-53786800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr10:53786600-53787000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr10:53786600-53787200	Enhancers	Fetal Stomach	stomach
20	chr10:53786600-53787400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr10:53786800-53787000	Enhancers	Rectal Smooth Muscle	rectum
22	chr10:53786800-53787200	Active TSS	Fetal Lung	lung
23	chr10:53786800-53787200	Active TSS	NHLF	lung
24	chr10:53786800-53789000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr10:53787000-53787200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:53787000-53787400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr10:53787000-53787400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:53787000-53788200	Enhancers	Colon Smooth Muscle	Colon
29	chr10:53787000-53790800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr10:53787200-53787400	Flanking Active TSS	Fetal Lung	lung
31	chr10:53787200-53787400	Enhancers	NHLF	lung
32	chr10:53787200-53787800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:53787400-53788200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr10:53787400-53789200	Weak transcription	NHLF	lung
35	chr10:53787400-53790200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:53787400-53790200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:53787400-53791000	Enhancers	Fetal Lung	lung
38	chr10:53787400-53791400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr10:53787600-53792400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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