Variant report

Variant	esv11339
Chromosome Location	chr2:234699391-234700081
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:234699273-234700374	SK-N-MC	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	2:234683624-234705119..2:234772667-234780240	Hela-S3	cervix:
2	chr2:234697940..234699847-chr2:234705586..234707184,2	MCF-7	breast:

Variant related genes	Relation type
MROH2A	TF binding region
ENSG00000224287	chromatin interactions

Extended variants
information (count: 37 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553548120	chr2:234699411-234699412	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs370976088	chr2:234699423-234699424	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376934314	chr2:234699483-234699484	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs576666859	chr2:234699511-234699512	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374273340	chr2:234699512-234699513	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146023946	chr2:234699547-234699548	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139929929	chr2:234699560-234699561	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529823569	chr2:234699580-234699581	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575963311	chr2:234699591-234699592	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114976790	chr2:234699601-234699602	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188592590	chr2:234699603-234699604	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377719662	chr2:234699619-234699620	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs62191952	chr2:234699627-234699628	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572052614	chr2:234699661-234699662	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs577261349	chr2:234699677-234699678	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs371193937	chr2:234699678-234699679	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374231619	chr2:234699687-234699688	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370632253	chr2:234699737-234699738	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78456873	chr2:234699747-234699748	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs78949733	chr2:234699750-234699751	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs192833242	chr2:234699785-234699786	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76570905	chr2:234699786-234699787	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533603854	chr2:234699806-234699807	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs539848440	chr2:234699833-234699834	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563850605	chr2:234699835-234699836	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs529253358	chr2:234699856-234699857	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs149709616	chr2:234699883-234699884	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs115443933	chr2:234699923-234699924	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs534784341	chr2:234699933-234699934	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs578131628	chr2:234699939-234699940	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs553594631	chr2:234699954-234699955	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs570290632	chr2:234699956-234699957	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs539269363	chr2:234699992-234699993	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs148521177	chr2:234699995-234699996	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs111834126	chr2:234700029-234700030	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs142868105	chr2:234700043-234700044	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs535384867	chr2:234700073-234700074	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	22429812	CNVD
Bladder cancer	21909424	CNVD
Renal cell carcinoma	21668985	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
prenatal diagnosis	22389664	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Mental retardation	20152051	CNVD
Cancer	21183584	CNVD
Albright''s disease	22277900	CNVD
Brachydactyly-Mental Retardation Syndrome	22470819	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Colorectal cancer	19359472	CNVD
Autism	18414403	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234699400-234699800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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