Variant report

Variant	rs11126578
Chromosome Location	chr2:77211572-77211573
allele	G/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	chr2:77211492-77211936	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:77211501-77211853	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr2:77211399-77211928	PFSK-1	brain:	n/a	n/a
4	FOS	chr2:77211472-77211865	HUVEC	blood vessel:	n/a	n/a
5	TAF1	chr2:77211556-77211906	PFSK-1	brain:	n/a	n/a
6	REST	chr2:77211548-77211854	PFSK-1	brain:	n/a	n/a
7	GATA2	chr2:77211469-77211916	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000234653	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10048661	0.81[AMR][1000 genomes]
rs10195940	0.89[CHB][hapmap]
rs10205089	0.89[CHB][hapmap]
rs10520173	0.86[JPT][hapmap]
rs10520175	0.86[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11899047	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs11901979	0.81[JPT][hapmap]
rs12105351	0.85[JPT][hapmap]
rs12233066	0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12233069	0.98[ASN][1000 genomes]
rs12233136	0.81[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13384774	0.86[JPT][hapmap]
rs13396539	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs13414012	0.81[AMR][1000 genomes]
rs1446708	0.81[JPT][hapmap]
rs1446719	0.82[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1562343	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17013284	0.86[JPT][hapmap]
rs17013289	0.86[JPT][hapmap]
rs17013370	0.86[JPT][hapmap]
rs17013382	0.86[JPT][hapmap]
rs17013386	0.86[JPT][hapmap]
rs17013452	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs17013534	0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17013535	0.86[JPT][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs17013563	0.86[JPT][hapmap];1.00[AMR][1000 genomes]
rs17013567	0.82[JPT][hapmap]
rs17013580	0.89[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes]
rs17040489	0.86[JPT][hapmap]
rs17040494	0.89[CHB][hapmap];0.86[JPT][hapmap]
rs1882350	0.86[JPT][hapmap]
rs1929450	0.86[JPT][hapmap]
rs2103377	0.86[JPT][hapmap]
rs41375150	0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55765941	0.81[AMR][1000 genomes]
rs61335199	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6708694	0.86[JPT][hapmap]
rs6751017	0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77206600-77211600	Weak transcription	Fetal Lung	lung
2	chr2:77206800-77211600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:77210600-77214200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:77210600-77214200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr2:77210800-77212200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:77211000-77214200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:77211200-77212400	Enhancers	HUVEC	blood vessel
8	chr2:77211400-77211800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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