Variant report

Variant	nsv550873
Chromosome Location	chr10:53811431-53838761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1086 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1086 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10824002	chr10:53811431-53811432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536422601	chr10:53811436-53811437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553230657	chr10:53811557-53811558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566756882	chr10:53811577-53811578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188556320	chr10:53811646-53811647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61849897	chr10:53811667-53811668	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs192373560	chr10:53811703-53811704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78066648	chr10:53811704-53811705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139476023	chr10:53811737-53811738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs398114332	chr10:53811739-53811740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs199556959	chr10:53811742-53811743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377376623	chr10:53811743-53811744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570390551	chr10:53811785-53811786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73341286	chr10:53811876-53811877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574216473	chr10:53811896-53811897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11597771	chr10:53811932-53811933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559173416	chr10:53811968-53811969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377447917	chr10:53812001-53812002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535032146	chr10:53812173-53812174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143155555	chr10:53812184-53812185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201896675	chr10:53812205-53812206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540408799	chr10:53812254-53812255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560351465	chr10:53812270-53812271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575930862	chr10:53812279-53812280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184399515	chr10:53812320-53812321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190490252	chr10:53812343-53812344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563204131	chr10:53812392-53812393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72803111	chr10:53812394-53812395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182394598	chr10:53812419-53812420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115117656	chr10:53812430-53812431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186032205	chr10:53812444-53812445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546807290	chr10:53812476-53812477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544885492	chr10:53812508-53812509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146681519	chr10:53812512-53812513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73341287	chr10:53812515-53812516	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs150243505	chr10:53812531-53812532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs56049116	chr10:53812587-53812588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537416660	chr10:53812700-53812701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538818431	chr10:53812733-53812734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554173837	chr10:53812751-53812752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561577214	chr10:53812766-53812767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572608636	chr10:53812836-53812837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574182830	chr10:53812852-53812853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544166770	chr10:53812879-53812880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201652691	chr10:53812983-53812984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61849898	chr10:53812985-53812986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557507702	chr10:53812988-53812989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5784900	chr10:53812989-53812990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs397710148	chr10:53812990-53812991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377396136	chr10:53812991-53812992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Breast cancer	22522925	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53803800-53822800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:53804000-53822800	Weak transcription	Aorta	Aorta
3	chr10:53805800-53816800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr10:53805800-53824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr10:53806600-53816200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr10:53809200-53816000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr10:53810400-53813600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr10:53811000-53811800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr10:53811200-53811600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:53811400-53811600	Enhancers	Psoas Muscle	Psoas
11	chr10:53811400-53811800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr10:53811600-53816000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:53813000-53813800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:53813200-53813600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:53813600-53815000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:53814200-53814400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr10:53814400-53842800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:53815000-53827000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:53816000-53816200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr10:53816000-53817200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr10:53816200-53816600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr10:53816200-53817400	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr10:53816600-53817400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr10:53816600-53817400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:53816800-53817400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr10:53816800-53817400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:53816800-53817400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr10:53816800-53817400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:53817200-53820800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr10:53817400-53820600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr10:53817400-53820600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr10:53817400-53820600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr10:53817400-53822800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr10:53817400-53822800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr10:53817400-53830000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr10:53819400-53824000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr10:53820600-53821000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:53820600-53821000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr10:53820600-53821200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr10:53820800-53821200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr10:53820800-53821200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr10:53821000-53822800	Weak transcription	Fetal Muscle Leg	muscle
43	chr10:53821000-53825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr10:53821000-53828600	Weak transcription	Lung	lung
45	chr10:53821200-53823800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr10:53821200-53824000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr10:53821200-53826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr10:53821200-53826000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr10:53821400-53823000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr10:53821400-53823000	Weak transcription	Fetal Muscle Trunk	muscle

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