Variant report

Variant	rs615270
Chromosome Location	chr11:67313056-67313057
allele	A/G
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	ATF3	chr11:67312874-67313142	K562	blood:	n/a	n/a
2	MAX	chr11:67312846-67313193	K562	blood:	n/a	n/a
3	CTCF	chr11:67312920-67313070	GM12875	blood:	n/a	chr11:67312929-67312947 chr11:67312924-67312945 chr11:67312935-67312944 chr11:67312930-67312946
4	USF1	chr11:67312918-67313126	SK-N-SH_RA	brain:	n/a	chr11:67312927-67312943
5	CTCF	chr11:67312940-67313090	GM12874	blood:	n/a	n/a
6	CTCF	chr11:67312801-67313211	K562	blood:	n/a	chr11:67312929-67312947 chr11:67312924-67312945 chr11:67312935-67312944 chr11:67312930-67312946
7	MAX	chr11:67313009-67313147	HepG2	liver:	n/a	n/a
8	USF2	chr11:67312859-67313236	H1-hESC	embryonic stem cell:	n/a	chr11:67312927-67312943 chr11:67313037-67313048
9	BHLHE40	chr11:67312875-67313162	HepG2	liver:	n/a	chr11:67312927-67312943
10	MAZ	chr11:67312920-67313135	K562	blood:	n/a	n/a
11	USF1	chr11:67312785-67313277	K562	blood:	n/a	chr11:67312927-67312943
12	USF1	chr11:67312803-67313218	H1-hESC	embryonic stem cell:	n/a	chr11:67312927-67312943
13	CTCF	chr11:67312920-67313070	GM12873	blood:	n/a	chr11:67312929-67312947 chr11:67312924-67312945 chr11:67312935-67312944 chr11:67312930-67312946
14	MYC	chr11:67313022-67313133	K562	blood:	n/a	n/a
15	CTCF	chr11:67312798-67313128	H1-hESC	embryonic stem cell:	n/a	chr11:67312929-67312947 chr11:67312924-67312945 chr11:67312935-67312944 chr11:67312930-67312946
16	USF1	chr11:67312875-67313194	K562	blood:	n/a	chr11:67312927-67312943
17	MYC	chr11:67312912-67313175	K562	blood:	n/a	n/a
18	USF1	chr11:67312936-67313133	HepG2	liver:	n/a	n/a
19	ZNF263	chr11:67312879-67313190	HEK293-T-REx	kidney:	n/a	n/a
20	NFYA	chr11:67312985-67313174	Hela-S3	cervix:	n/a	n/a
21	JUND	chr11:67312936-67313150	K562	blood:	n/a	n/a
22	USF2	chr11:67312876-67313192	HepG2	liver:	n/a	chr11:67312927-67312943 chr11:67313037-67313048
23	NFYB	chr11:67312852-67313243	K562	blood:	n/a	n/a
24	BHLHE40	chr11:67312851-67313259	K562	blood:	n/a	chr11:67312927-67312943
25	RCOR1	chr11:67312800-67313264	K562	blood:	n/a	n/a
26	USF2	chr11:67312872-67313204	K562	blood:	n/a	chr11:67312927-67312943 chr11:67313037-67313048
27	THAP1	chr11:67312930-67313090	K562	blood:	n/a	n/a
28	CTCF	chr11:67312765-67313102	K562	blood:	n/a	chr11:67312929-67312947 chr11:67312924-67312945 chr11:67312935-67312944 chr11:67312930-67312946
29	USF1	chr11:67312776-67313247	H1-hESC	embryonic stem cell:	n/a	chr11:67312927-67312943
30	CTCF	chr11:67312920-67313070	AG09319	gingival:	n/a	chr11:67312929-67312947 chr11:67312924-67312945 chr11:67312935-67312944 chr11:67312930-67312946
31	MAX	chr11:67312874-67313168	K562	blood:	n/a	n/a
32	USF1	chr11:67312959-67313169	SK-N-SH_RA	brain:	n/a	n/a
33	RCOR1	chr11:67312909-67313148	K562	blood:	n/a	n/a
34	USF2	chr11:67312872-67313182	Hela-S3	cervix:	n/a	chr11:67312927-67312943 chr11:67313037-67313048
35	USF1	chr11:67312878-67313175	HepG2	liver:	n/a	chr11:67312927-67312943
36	NFYB	chr11:67312995-67313179	Hela-S3	cervix:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSTP1-3	chr11:67312746-67313301	NONHSAT022438

Variant related genes	Relation type
RN7SL59P	TF binding region

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11227848	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs1254125	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1254130	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1871041	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2169650	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs2509725	0.94[JPT][hapmap]
rs34743590	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4930204	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930443	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs584338	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593055	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs594784	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs595262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598398	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs604232	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs604908	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs612162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs615260	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs627449	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs627956	0.82[CEU][hapmap]
rs629952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs643317	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs644670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs649149	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs655848	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs656798	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591246	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6591247	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661624	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]
rs667014	0.82[ASN][1000 genomes]
rs669956	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs675679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs676653	0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs685032	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs687316	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]
rs688878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689317	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs694616	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]
rs7128347	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7927381	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs615270	GSTP1	cis	multi-tissue	Pritchard

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67309600-67314600	Enhancers	Dnd41	blood
2	chr11:67310400-67313200	Enhancers	Duodenum Mucosa	Duodenum
3	chr11:67310800-67314400	Enhancers	Colonic Mucosa	Colon
4	chr11:67310800-67314800	Enhancers	Pancreas	Pancrea
5	chr11:67311000-67313200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:67311200-67313200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr11:67311400-67313800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:67311600-67313200	Enhancers	Fetal Intestine Large	intestine
9	chr11:67311800-67314600	Enhancers	Fetal Intestine Small	intestine
10	chr11:67312000-67313400	Enhancers	Fetal Heart	heart
11	chr11:67312200-67313200	Enhancers	Liver	Liver
12	chr11:67312200-67313200	Enhancers	Right Atrium	heart
13	chr11:67312200-67313200	Enhancers	Right Ventricle	heart
14	chr11:67312200-67313200	Enhancers	Stomach Mucosa	stomach
15	chr11:67312200-67313200	Enhancers	K562	blood
16	chr11:67312400-67313200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:67312400-67313200	Enhancers	Spleen	Spleen
18	chr11:67312600-67313200	Enhancers	Lung	lung
19	chr11:67312800-67313200	Enhancers	Adipose Nuclei	Adipose
20	chr11:67312800-67313200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr11:67312800-67313200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr11:67312800-67313200	Enhancers	HepG2	liver
23	chr11:67312800-67314400	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr11:67312800-67314600	Enhancers	Rectal Mucosa Donor 31	rectum

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