Variant report

Variant	esv3367984
Chromosome Location	chr2:187856607-187861205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187857405..187859088-chr2:187860178..187862103,2	K562	blood:
2	chr2:187856443..187858232-chr2:187865302..187867610,2	K562	blood:
3	chr2:187856061..187858232-chr2:187866110..187867963,2	K562	blood:
4	chr2:187840952..187844583-chr2:187855371..187857409,3	K562	blood:
5	chr2:187857591..187860590-chr2:187861655..187864110,2	MCF-7	breast:
6	chr2:187857405..187859088-chr2:187860178..187862103,2	K562	blood:
7	chr2:187860717..187862975-chr2:187863263..187865056,2	MCF-7	breast:
8	chr2:187860536..187863218-chr2:187865977..187868878,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226553	chromatin interactions
ENSG00000224063	chromatin interactions

Extended variants
information (count: 145 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4666718	chr2:187856619-187856620	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79004330	chr2:187856648-187856649	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552348519	chr2:187856705-187856706	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563982210	chr2:187856729-187856730	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528124839	chr2:187856737-187856738	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs546308591	chr2:187856773-187856774	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs576556896	chr2:187856851-187856852	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs192204592	chr2:187856861-187856862	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72901461	chr2:187856862-187856863	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs567587562	chr2:187856871-187856872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs371929052	chr2:187856908-187856909	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs4667138	chr2:187856937-187856938	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs183975804	chr2:187857006-187857007	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539784249	chr2:187857007-187857008	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs558343346	chr2:187857023-187857024	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573478830	chr2:187857059-187857060	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs576916170	chr2:187857106-187857107	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555918344	chr2:187857180-187857181	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574076481	chr2:187857188-187857189	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs188700040	chr2:187857224-187857225	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562781909	chr2:187857256-187857257	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576926754	chr2:187857269-187857270	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs115906109	chr2:187857311-187857312	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200741068	chr2:187857317-187857318	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563907783	chr2:187857406-187857407	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs35996802	chr2:187857413-187857414	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528293954	chr2:187857455-187857456	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs546419067	chr2:187857480-187857481	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs180716832	chr2:187857481-187857482	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529021311	chr2:187857489-187857490	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545870679	chr2:187857490-187857491	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568763479	chr2:187857519-187857520	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72901464	chr2:187857528-187857529	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs552117751	chr2:187857578-187857579	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186096393	chr2:187857597-187857598	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534368288	chr2:187857607-187857608	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556028840	chr2:187857671-187857672	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567737759	chr2:187857742-187857743	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs76915458	chr2:187857751-187857752	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs556472131	chr2:187857776-187857777	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144974458	chr2:187857782-187857783	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs545668046	chr2:187857827-187857828	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs115796315	chr2:187857844-187857845	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572838422	chr2:187857862-187857863	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs190250712	chr2:187857872-187857873	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182323409	chr2:187857958-187857959	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2632472	chr2:187857970-187857971	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528936551	chr2:187857973-187857974	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs147924904	chr2:187857993-187857994	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs35647709	chr2:187858062-187858063	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
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
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
Urothelial carcinoma	21177765	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187856600-187858600	Enhancers	HUVEC	blood vessel
2	chr2:187858200-187858600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:187858600-187859800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr2:187858600-187859800	Weak transcription	HUVEC	blood vessel
5	chr2:187859800-187860400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr2:187859800-187860400	Enhancers	HUVEC	blood vessel
7	chr2:187860000-187860400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links