Variant report

Variant	rs7106675
Chromosome Location	chr11:67314269-67314270
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	GATA1	chr11:67314246-67314852	K562	blood:	n/a	chr11:67314523-67314531

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67308301..67310313-chr11:67313497..67315671,2	MCF-7	breast:

Variant related genes	Relation type
RN7SL59P	TF binding region
ENSG00000244152	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1079719	0.83[EUR][1000 genomes]
rs10896181	0.93[EUR][1000 genomes]
rs11603991	0.89[CHB][hapmap]
rs11605586	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12421329	0.88[CHB][hapmap]
rs12790798	0.88[CHB][hapmap]
rs12793832	0.88[CHB][hapmap]
rs1695	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs17593068	0.86[EUR][1000 genomes]
rs1871034	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs1871036	0.82[EUR][1000 genomes]
rs1871043	0.89[CHB][hapmap]
rs2370141	0.84[CHB][hapmap];0.90[EUR][1000 genomes]
rs2370142	0.89[EUR][1000 genomes]
rs2370143	0.82[EUR][1000 genomes]
rs2514022	0.88[CHB][hapmap]
rs34721562	0.83[EUR][1000 genomes]
rs34802338	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4024254	0.88[CHB][hapmap]
rs4148959	0.88[CHB][hapmap]
rs4320958	0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs4891	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4930430	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4930431	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4930436	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55854833	0.89[EUR][1000 genomes]
rs57808037	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58046082	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6591244	0.81[EUR][1000 genomes]
rs6591245	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6591249	0.91[EUR][1000 genomes]
rs6591251	0.91[EUR][1000 genomes]
rs6591252	0.91[EUR][1000 genomes]
rs6591254	0.91[EUR][1000 genomes]
rs6591255	0.90[EUR][1000 genomes]
rs6591256	0.90[EUR][1000 genomes]
rs7103632	0.89[CHB][hapmap]
rs7103713	0.93[EUR][1000 genomes]
rs7106423	0.82[JPT][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7108426	0.93[EUR][1000 genomes]
rs762803	0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs7927657	0.91[EUR][1000 genomes]
rs7938563	0.82[EUR][1000 genomes]
rs7940813	0.91[EUR][1000 genomes]
rs7941395	0.91[EUR][1000 genomes]
rs7941648	0.91[EUR][1000 genomes]
rs7945035	0.90[EUR][1000 genomes]
rs7945927	0.91[EUR][1000 genomes]
rs7948073	0.89[CHB][hapmap]
rs7948478	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7948823	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7948911	0.92[EUR][1000 genomes]
rs7949394	0.89[EUR][1000 genomes]
rs7949587	0.90[EUR][1000 genomes]
rs7952081	1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7952248	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7106675	GSTP1	cis	Esophagus Muscularis	GTEx
rs7106675	PTPRCAP	cis	Nerve Tibial	GTEx
rs7106675	PTPRCAP	cis	Artery Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67309600-67314600	Enhancers	Dnd41	blood
2	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
3	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea
4	chr11:67311800-67314600	Enhancers	Fetal Intestine Small	intestine
5	chr11:67312800-67314400	Bivalent Enhancer	Fetal Muscle Leg	muscle
6	chr11:67312800-67314600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:67313200-67314400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr11:67313200-67314400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:67313200-67316000	Weak transcription	Liver	Liver
10	chr11:67313200-67316000	Weak transcription	HepG2	liver
11	chr11:67313200-67316200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:67314000-67314400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:67314000-67325400	Weak transcription	Fetal Heart	heart
14	chr11:67314200-67314600	Enhancers	K562	blood

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