Variant report

Variant	rs694616
Chromosome Location	chr11:67311258-67311259
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:67311218-67311374	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:67310074..67312796-chr11:67395980..67398997,3	K562	blood:
2	chr11:67309805..67311983-chr11:67342547..67345264,2	K562	blood:
3	chr11:67294127..67296248-chr11:67310062..67312505,2	MCF-7	breast:
4	chr11:67306648..67309517-chr11:67310700..67312704,2	K562	blood:
5	chr11:67272876..67275672-chr11:67310253..67312685,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL59P	TF binding region
ENSG00000244152	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000167799	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11227848	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs1254125	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1254130	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871041	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2169650	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2509725	0.94[JPT][hapmap]
rs34743590	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930204	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930443	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs584338	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593055	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs594784	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs595262	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598398	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs604232	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs604908	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs612162	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615260	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615270	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs627449	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs629952	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641544	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs643317	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs644670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs649149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655848	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs656798	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591246	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591247	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661624	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]
rs667014	0.82[ASN][1000 genomes]
rs669956	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs675679	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs676653	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs685032	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs687316	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]
rs688878	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.91[TSI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689317	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128347	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7927381	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
8	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs694616	GSTP1	cis	multi-tissue	Pritchard

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67305200-67312200	Weak transcription	Right Ventricle	heart
2	chr11:67307000-67312400	Weak transcription	Esophagus	oesophagus
3	chr11:67307200-67311800	Weak transcription	Hela-S3	cervix
4	chr11:67307600-67312400	Weak transcription	Spleen	Spleen
5	chr11:67308000-67312200	Weak transcription	K562	blood
6	chr11:67309600-67311600	Enhancers	Fetal Muscle Leg	muscle
7	chr11:67309600-67314600	Enhancers	Dnd41	blood
8	chr11:67309800-67312800	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:67310400-67312200	Enhancers	HepG2	liver
10	chr11:67310400-67312400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr11:67310400-67313200	Enhancers	Duodenum Mucosa	Duodenum
12	chr11:67310600-67312200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:67310600-67312400	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr11:67310800-67311400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:67310800-67311800	Weak transcription	Fetal Intestine Small	intestine
16	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
17	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea
18	chr11:67311000-67312000	Weak transcription	A549	lung
19	chr11:67311000-67313200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:67311200-67312200	Weak transcription	Left Ventricle	heart
21	chr11:67311200-67312600	Weak transcription	Ovary	ovary
22	chr11:67311200-67312800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr11:67311200-67313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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