Variant report

Variant	esv3387393
Chromosome Location	chr10:57659646-57665244
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532160575	chr10:57659661-57659662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs545621461	chr10:57659703-57659704	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs562241385	chr10:57659706-57659707	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs531477306	chr10:57659736-57659737	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs376298519	chr10:57659746-57659747	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547992203	chr10:57659752-57659753	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs568003679	chr10:57659753-57659754	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs559744205	chr10:57659784-57659785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs547279212	chr10:57659792-57659793	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs185870298	chr10:57659819-57659820	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533163030	chr10:57659825-57659826	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551489954	chr10:57659826-57659827	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563465183	chr10:57659844-57659845	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs539211228	chr10:57659845-57659846	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559239260	chr10:57659883-57659884	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373052024	chr10:57659884-57659885	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs538296919	chr10:57659971-57659972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554767752	chr10:57659980-57659981	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs574747130	chr10:57659997-57659998	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs540266137	chr10:57660013-57660014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553630426	chr10:57660053-57660054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576774072	chr10:57660061-57660062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4264090	chr10:57660082-57660083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562665645	chr10:57660104-57660105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531411897	chr10:57660106-57660107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370391243	chr10:57660116-57660117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541882482	chr10:57660161-57660162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561647023	chr10:57660178-57660179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111523526	chr10:57660179-57660180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527260686	chr10:57660231-57660232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547441632	chr10:57660273-57660274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567165583	chr10:57660291-57660292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532897168	chr10:57660350-57660351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552913553	chr10:57660357-57660358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4532954	chr10:57660373-57660374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4265520	chr10:57660377-57660378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374511291	chr10:57660380-57660381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs141226890	chr10:57660427-57660428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs568489603	chr10:57660451-57660452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4375369	chr10:57660459-57660460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189341336	chr10:57660466-57660467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576839199	chr10:57660477-57660478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181324323	chr10:57660504-57660505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4271321	chr10:57660514-57660515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576153557	chr10:57660521-57660522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541691105	chr10:57660524-57660525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs561798010	chr10:57660538-57660539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572214842	chr10:57660552-57660553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541016379	chr10:57660554-57660555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564029572	chr10:57660574-57660575	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Cancer	20164919	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57657600-57659800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr10:57658400-57659800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:57658400-57660000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:57659000-57659800	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:57659000-57660000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:57659000-57660000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr10:57659200-57659800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr10:57659200-57659800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr10:57659200-57659800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr10:57659200-57660000	Active TSS	H1 Cell Line	embryonic stem cell
11	chr10:57659200-57660000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr10:57659200-57660000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr10:57659200-57660000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:57659400-57659800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:57659400-57659800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:57659400-57659800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr10:57659400-57660000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:57659400-57660000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:57659400-57660000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:57659600-57660000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr10:57660000-57660200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:57660200-57660600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:57660400-57660600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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