Variant report

Variant	rs11904750
Chromosome Location	chr2:171772471-171772472
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	CTCF	chr2:171772380-171772530	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171770754..171773506-chr2:171785657..171787829,2	K562	blood:
2	chr2:171770723..171773648-chr2:171784124..171786319,2	K562	blood:

Variant related genes	Relation type
ENSG00000266020	TF binding region
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10930447	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11682957	0.81[JPT][hapmap]
rs11898754	0.81[YRI][hapmap]
rs11899713	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902369	0.81[CHB][hapmap]
rs12465605	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12467411	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]
rs12468326	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473741	0.80[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap]
rs16859026	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859028	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16859050	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs16859076	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16859157	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17505447	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17608242	0.90[EUR][1000 genomes]
rs2059723	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap]
rs2081766	0.88[AFR][1000 genomes]
rs2081767	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2081768	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098999	0.86[CHB][hapmap]
rs2356422	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3731993	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3755124	0.86[CHB][hapmap];0.84[CHD][hapmap]
rs3755126	0.86[CHB][hapmap];0.83[CHD][hapmap]
rs3770436	0.95[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3770439	1.00[CEU][hapmap]
rs3886463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4668343	0.86[CHB][hapmap]
rs4668354	0.86[CHB][hapmap]
rs57556696	1.00[ASN][1000 genomes]
rs930035	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs964172	0.81[CHB][hapmap]

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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171771600-171772600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:171771800-171772600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:171771800-171772600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:171772400-171773400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:171772400-171773600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links