Variant report

Variant	rs2050567
Chromosome Location	chr13:37745508-37745509
allele	C/T
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	chr13:37745505-37745620	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RN7SKP1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11616599	0.86[EUR][1000 genomes]
rs1336757	1.00[ASN][1000 genomes]
rs1336758	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1336760	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1415073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1591586	0.83[EUR][1000 genomes]
rs17822604	0.83[EUR][1000 genomes]
rs1806525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858861	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858862	0.83[EUR][1000 genomes]
rs4054538	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4054539	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4054541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4098253	0.84[EUR][1000 genomes]
rs4098254	0.84[EUR][1000 genomes]
rs4463963	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4485227	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519211	0.85[EUR][1000 genomes]
rs4601911	0.84[EUR][1000 genomes]
rs4943445	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943446	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943447	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61120216	0.84[EUR][1000 genomes]
rs61135832	0.84[EUR][1000 genomes]
rs6563514	0.84[EUR][1000 genomes]
rs6563515	0.84[EUR][1000 genomes]
rs72621290	0.86[EUR][1000 genomes]
rs7317466	1.00[ASN][1000 genomes]
rs7327488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7330353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7330721	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7331543	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332263	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7337345	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7985799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993874	0.84[EUR][1000 genomes]
rs7994726	0.83[EUR][1000 genomes]
rs7995878	0.83[EUR][1000 genomes]
rs8000468	0.84[EUR][1000 genomes]
rs8002559	1.00[ASN][1000 genomes]
rs883514	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883527	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9285112	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9315473	0.82[EUR][1000 genomes]
rs938214	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938216	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs938217	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532008	1.00[ASN][1000 genomes]
rs9532009	0.99[ASN][1000 genomes]
rs9547733	1.00[ASN][1000 genomes]
rs9547734	1.00[ASN][1000 genomes]
rs9547735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547736	1.00[ASN][1000 genomes]
rs9547739	1.00[ASN][1000 genomes]
rs9547740	0.99[ASN][1000 genomes]
rs9566189	0.85[EUR][1000 genomes]
rs9566190	0.85[EUR][1000 genomes]
rs9566191	0.84[EUR][1000 genomes]
rs9576194	0.85[EUR][1000 genomes]
rs9576195	0.86[EUR][1000 genomes]
rs9576196	0.84[EUR][1000 genomes]
rs9576197	0.84[EUR][1000 genomes]
rs9576198	0.84[EUR][1000 genomes]
rs9576199	0.84[EUR][1000 genomes]
rs9576200	0.84[EUR][1000 genomes]
rs9576201	0.84[EUR][1000 genomes]
rs9576203	0.84[EUR][1000 genomes]
rs9576204	0.84[EUR][1000 genomes]
rs9603143	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37739800-37747400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:37743800-37745600	Weak transcription	Fetal Lung	lung
3	chr13:37743800-37746200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr13:37743800-37746200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr13:37743800-37746400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:37744200-37747200	Weak transcription	NHLF	lung
7	chr13:37744200-37747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:37744400-37747200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr13:37744600-37745600	Weak transcription	NHDF-Ad	bronchial
10	chr13:37744600-37746800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr13:37744600-37747200	Weak transcription	Osteobl	bone
12	chr13:37745000-37747000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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