Variant report

Variant	esv3514381
Chromosome Location	chr2:234476417-234477257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:234477247-234477295	GM20000	blood:	n/a	n/a
2	RFX5	chr2:234477116-234477199	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234475954..234478927-chr2:234479708..234482579,2	MCF-7	breast:
2	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:
3	chr2:234389092..234391362-chr2:234473035..234476486,3	MCF-7	breast:
4	chr2:234472403..234474529-chr2:234475981..234478934,2	MCF-7	breast:
5	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
6	chr2:234473282..234477495-chr2:234598048..234603332,9	MCF-7	breast:

No data

Variant related genes	Relation type
USP40	TF binding region
ENSG00000085982	chromatin interactions
ENSG00000167165	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569069628	chr2:234476430-234476431	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181935809	chr2:234476458-234476459	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556755323	chr2:234476476-234476477	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs573659973	chr2:234476484-234476485	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs35576313	chr2:234476903-234476904	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145099760	chr2:234477131-234477132	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs185513250	chr2:234477144-234477145	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs13404501	chr2:234477148-234477149	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs550477771	chr2:234477196-234477197	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs112932661	chr2:234477198-234477199	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs189594900	chr2:234477202-234477203	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs180783996	chr2:234477203-234477204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142452936	chr2:234477228-234477229	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs373138331	chr2:234477229-234477230	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530201244	chr2:234477255-234477256	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234475400-234478200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234475600-234477200	Weak transcription	Ovary	ovary
3	chr2:234475600-234480000	Weak transcription	A549	lung
4	chr2:234475800-234477200	Weak transcription	K562	blood
5	chr2:234477200-234477400	Enhancers	Right Atrium	heart
6	chr2:234477200-234477600	Enhancers	K562	blood
7	chr2:234477200-234477800	Enhancers	Ovary	ovary

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