Variant report

Variant	nsv1043984
Chromosome Location	chr10:55436702-55457884
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 303 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554411104	chr10:55437816-55437817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189683560	chr10:55437850-55437851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs180907049	chr10:55437852-55437853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547285974	chr10:55437928-55437929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567022784	chr10:55437935-55437936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553061963	chr10:55437939-55437940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146346397	chr10:55437943-55437944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76101037	chr10:55437975-55437976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186320317	chr10:55437979-55437980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75837804	chr10:55438029-55438030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544594516	chr10:55438037-55438038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561536264	chr10:55438062-55438063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529715462	chr10:55438098-55438099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540192912	chr10:55438120-55438121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538338292	chr10:55438124-55438125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560179299	chr10:55438157-55438158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532151833	chr10:55438250-55438251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35367570	chr10:55438254-55438255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558235739	chr10:55438258-55438259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370144736	chr10:55438280-55438281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114080624	chr10:55438284-55438285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578077381	chr10:55438288-55438289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139301614	chr10:55438326-55438327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531508520	chr10:55438356-55438357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375713186	chr10:55438368-55438369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567976355	chr10:55438374-55438375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16937642	chr10:55438386-55438387	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552998433	chr10:55438389-55438390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566836890	chr10:55438418-55438419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191565012	chr10:55438419-55438420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558974812	chr10:55438429-55438430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149511934	chr10:55438434-55438435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs825805	chr10:55438490-55438491	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs572907825	chr10:55438645-55438646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs825806	chr10:55438682-55438683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540922785	chr10:55438685-55438686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35167625	chr10:55438706-55438707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559917640	chr10:55438785-55438786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17697085	chr10:55438823-55438824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115093226	chr10:55438848-55438849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562559865	chr10:55438865-55438866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144829074	chr10:55438960-55438961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186198000	chr10:55442207-55442208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141444782	chr10:55442245-55442246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575906655	chr10:55442254-55442255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528775016	chr10:55442417-55442418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538477460	chr10:55442471-55442472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189261396	chr10:55442477-55442478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563698524	chr10:55442481-55442482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs111424928	chr10:55442482-55442483	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55437800-55438400	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr10:55437800-55438600	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:55437800-55439000	Enhancers	Fetal Lung	lung
4	chr10:55438000-55438400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr10:55438200-55438600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr10:55442200-55443400	Enhancers	Fetal Brain Male	brain
7	chr10:55442400-55442800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:55449200-55449600	Enhancers	Right Atrium	heart
9	chr10:55449400-55454200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr10:55449600-55450000	Weak transcription	Right Atrium	heart
11	chr10:55450000-55450600	Enhancers	Right Atrium	heart
12	chr10:55450200-55450600	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr10:55450200-55451000	Enhancers	Fetal Heart	heart
14	chr10:55454200-55454400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr10:55454200-55454400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr10:55454400-55454600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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