Variant report

Variant	esv3409319
Chromosome Location	chr2:185386495-185412533
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 419 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548127937	chr2:185388432-185388433	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76341800	chr2:185388461-185388462	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142571394	chr2:185388549-185388550	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191661749	chr2:185388558-185388559	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570288423	chr2:185388560-185388561	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183879059	chr2:185388600-185388601	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552836631	chr2:185388615-185388616	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574349111	chr2:185388667-185388668	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541758561	chr2:185388768-185388769	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557298953	chr2:185388814-185388815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146748534	chr2:185388826-185388827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34140217	chr2:185388850-185388851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74449340	chr2:185388874-185388875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376195134	chr2:185388921-185388922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536468701	chr2:185388937-185388938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528694068	chr2:185389007-185389008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76977894	chr2:185389027-185389028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187626111	chr2:185389065-185389066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529566482	chr2:185389082-185389083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs13390161	chr2:185389128-185389129	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs569617008	chr2:185389157-185389158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573185848	chr2:185389189-185389190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577339512	chr2:185389223-185389224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552245765	chr2:185389239-185389240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62174888	chr2:185389301-185389302	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371767135	chr2:185389315-185389316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552700178	chr2:185389338-185389339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62174889	chr2:185389340-185389341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs536166332	chr2:185389350-185389351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557011037	chr2:185389363-185389364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575574935	chr2:185389383-185389384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189763444	chr2:185389428-185389429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557658651	chr2:185389468-185389469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569499691	chr2:185389494-185389495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540734395	chr2:185389497-185389498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12105123	chr2:185389528-185389529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139395481	chr2:185389531-185389532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13002761	chr2:185389532-185389533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540022292	chr2:185389533-185389534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563084607	chr2:185389534-185389535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530514680	chr2:185389545-185389546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369004275	chr2:185389584-185389585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551712978	chr2:185389620-185389621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529792398	chr2:185389650-185389651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545046311	chr2:185389690-185389691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35005555	chr2:185389700-185389701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182320988	chr2:185389767-185389768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186589677	chr2:185389795-185389796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79915397	chr2:185389804-185389805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567901019	chr2:185389845-185389846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Schizophrenia	23813976	CNVD
Psychiatric disorder	20548289	CNVD
Psychosis	20048749	CNVD
Rectal cancer	20877625	CNVD
Schizophrenia	20548289	CNVD
anxiety disorder	20548289	CNVD
Autism	20548289	CNVD
Bipolar disorder	20548289	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:185388400-185388600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:185388400-185388800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:185388600-185389200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:185388600-185393000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:185389200-185390200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:185392000-185394600	ZNF genes & repeats	Liver	Liver
7	chr2:185392400-185393600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr2:185393000-185393400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:185393000-185393600	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr2:185394600-185396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:185398000-185398400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr2:185398400-185399600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:185399600-185400200	Enhancers	HMEC	breast
14	chr2:185399600-185400200	Enhancers	NHEK	skin
15	chr2:185399800-185400000	Enhancers	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links