Variant report

Variant	esv3393195
Chromosome Location	chr10:53716196-53718044
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565934811	chr10:53716282-53716283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73339223	chr10:53716402-53716403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs115754647	chr10:53716416-53716417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140789817	chr10:53716423-53716424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376800840	chr10:53716449-53716450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4935295	chr10:53716463-53716464	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs10664486	chr10:53716472-53716473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10665520	chr10:53716473-53716474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71785773	chr10:53716479-53716480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200235049	chr10:53716482-53716483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575298681	chr10:53716489-53716490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190735421	chr10:53716492-53716493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536819393	chr10:53716500-53716501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553313828	chr10:53716517-53716518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12411770	chr10:53716542-53716543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs545305883	chr10:53716570-53716571	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs182635453	chr10:53716585-53716586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187906663	chr10:53716596-53716597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs544280973	chr10:53716605-53716606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368593482	chr10:53716618-53716619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192426967	chr10:53716631-53716632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530154344	chr10:53716656-53716657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143725296	chr10:53716704-53716705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs398114330	chr10:53716705-53716706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541418913	chr10:53716711-53716712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577593385	chr10:53716735-53716736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549112872	chr10:53716761-53716762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376906973	chr10:53716788-53716789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562135273	chr10:53716794-53716795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs199822568	chr10:53716822-53716823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73339224	chr10:53716823-53716824	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149462049	chr10:53716867-53716868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374262191	chr10:53716868-53716869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545045200	chr10:53716882-53716883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558828217	chr10:53716884-53716885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146554859	chr10:53716885-53716886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564496587	chr10:53716911-53716912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71489334	chr10:53716913-53716914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71489335	chr10:53716915-53716916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71489336	chr10:53716917-53716918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146269300	chr10:53716919-53716920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143641070	chr10:53716920-53716921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10823914	chr10:53716934-53716935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551744897	chr10:53716947-53716948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10823915	chr10:53716969-53716970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115858902	chr10:53716973-53716974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550609239	chr10:53716977-53716978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs386743688	chr10:53716992-53716993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386743689	chr10:53716996-53716997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148628791	chr10:53717009-53717010	Weak transcription	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
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
Cancer	20164920	CNVD
Ollier disease	21235737	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53711000-53720400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr10:53713400-53720600	Weak transcription	Fetal Stomach	stomach
3	chr10:53713400-53742400	Weak transcription	Aorta	Aorta
4	chr10:53713800-53720400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:53714400-53716400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr10:53714600-53716600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr10:53715200-53720400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:53715800-53716400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr10:53715800-53716600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr10:53715800-53720000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:53715800-53720400	Weak transcription	Brain Anterior Caudate	brain
12	chr10:53716000-53720400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr10:53716000-53720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr10:53716000-53720400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr10:53716000-53720400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr10:53716000-53720400	Weak transcription	NHDF-Ad	bronchial
17	chr10:53716400-53719800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr10:53716400-53720400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr10:53716600-53716800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:53716600-53719800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr10:53716600-53720400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links