Variant report

Variant	rs593055
Chromosome Location	chr11:67346869-67346870
allele	A/C
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	FOXA1	chr11:67346438-67346973	HepG2	liver:	n/a	chr11:67346848-67346860
2	TBL1XR1	chr11:67346577-67347377	K562	blood:	n/a	n/a
3	RAD21	chr11:67346733-67347323	H1-hESC	embryonic stem cell:	n/a	chr11:67347109-67347128
4	RAD21	chr11:67346712-67347297	GM12878	blood:	n/a	chr11:67347109-67347128
5	CTCF	chr11:67346780-67346930	GM12864	blood:	n/a	n/a
6	CTCF	chr11:67346861-67347240	GM12891	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
7	MTA3	chr11:67346773-67347563	GM12878	blood:	n/a	n/a
8	CEBPB	chr11:67346540-67346933	MCF-7	breast:	n/a	n/a
9	EP300	chr11:67346492-67346926	HepG2	liver:	n/a	chr11:67346813-67346827
10	CTCF	chr11:67346831-67346973	K562	blood:	n/a	n/a
11	FOXA2	chr11:67346386-67347054	A549	lung:	n/a	chr11:67346848-67346860
12	CTCF	chr11:67346837-67347254	GM12892	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
13	RAD21	chr11:67346844-67347266	H1-hESC	embryonic stem cell:	n/a	chr11:67347109-67347128
14	CTCF	chr11:67346840-67347130	HCT-116	colon:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
15	HDAC2	chr11:67346502-67346873	HepG2	liver:	n/a	n/a
16	PAX5	chr11:67346596-67347011	GM12878	blood:	n/a	n/a
17	CTCF	chr11:67346725-67347258	K562	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
18	CTCF	chr11:67346860-67347010	GM12870	blood:	n/a	n/a
19	RCOR1	chr11:67346582-67347527	K562	blood:	n/a	n/a
20	KAP1	chr11:67346583-67347417	HEK293	kidney:	n/a	n/a
21	KAP1	chr11:67346580-67347259	U2OS	brain:	n/a	n/a
22	CTCF	chr11:67346865-67347236	GM19239	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
23	CTCF	chr11:67346554-67347714	A549	lung:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
24	CTCF	chr11:67346860-67347010	GM12875	blood:	n/a	n/a
25	RAD21	chr11:67346836-67347370	A549	lung:	n/a	chr11:67347109-67347128
26	CTCF	chr11:67346829-67347256	GM12878	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
27	MYC	chr11:67346601-67347218	K562	blood:	n/a	n/a
28	FOXA1	chr11:67346526-67346932	HepG2	liver:	n/a	chr11:67346848-67346860
29	FOXA1	chr11:67346534-67346940	HepG2	liver:	n/a	chr11:67346848-67346860
30	SIN3AK20	chr11:67346529-67347128	MCF-7	breast:	n/a	n/a
31	FOXA1	chr11:67346517-67346984	HepG2	liver:	n/a	chr11:67346848-67346860
32	CTCF	chr11:67346740-67346890	GM12867	blood:	n/a	n/a
33	CTCF	chr11:67346800-67346950	HFF	foreskin:	n/a	n/a
34	SMC3	chr11:67346846-67347218	HepG2	liver:	n/a	chr11:67347113-67347127 chr11:67346870-67346880
35	CTCF	chr11:67346858-67347241	GM19238	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
36	FOXA2	chr11:67346557-67346960	A549	lung:	n/a	chr11:67346848-67346860
37	GATA3	chr11:67346481-67347516	MCF-7	breast:	n/a	chr11:67347334-67347344 chr11:67347335-67347344
38	NR2F2	chr11:67346500-67347040	MCF-7	breast:	n/a	n/a
39	CTCF	chr11:67346840-67346990	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr11:67346863-67346936	GM20000	blood:	n/a	n/a
41	CTCF	chr11:67346704-67347313	K562	blood:	n/a	chr11:67347111-67347129 chr11:67347106-67347127
42	TEAD4	chr11:67346486-67346878	HepG2	liver:	n/a	n/a
43	MYC	chr11:67346564-67347224	K562	blood:	n/a	n/a
44	EGR1	chr11:67346838-67347231	GM12878	blood:	n/a	chr11:67346947-67346969
45	CTCF	chr11:67346760-67346910	GM12871	blood:	n/a	n/a
46	FOXA2	chr11:67346217-67347201	HepG2	liver:	n/a	chr11:67346848-67346860
47	RUNX3	chr11:67346588-67347563	GM12878	blood:	n/a	n/a
48	CTCF	chr11:67346860-67347010	HCM	heart:	n/a	n/a
49	RAD21	chr11:67346743-67347220	GM12878	blood:	n/a	chr11:67347109-67347128
50	CTCF	chr11:67346760-67346910	GM12873	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67344270..67346942-chr11:67379351..67381800,2	MCF-7	breast:
2	chr11:67307923..67310034-chr11:67344749..67347317,2	K562	blood:
3	chr11:67343427..67347334-chr11:67376017..67380328,4	K562	blood:
4	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
5	chr11:67339734..67342343-chr11:67345681..67348171,3	MCF-7	breast:
6	chr11:67345086..67348074-chr11:67348502..67351412,2	K562	blood:

Variant related genes	Relation type
GSTP1	TF binding region
ENSG00000244152	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000231793	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1254125	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1254130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1871041	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2169650	0.82[ASN][1000 genomes]
rs34743590	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4930204	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930443	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930449	0.81[ASN][1000 genomes]
rs584338	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs594784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs595262	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs598398	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs601531	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs604232	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs604908	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs612162	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615260	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs615270	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs627449	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629952	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs641544	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643317	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644670	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs649149	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs655848	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656798	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591246	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6591247	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs661624	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs667014	0.84[ASN][1000 genomes]
rs669956	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs675679	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs676653	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs685032	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687316	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs688878	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689317	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694616	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7128347	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7927381	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs593055	GSTP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67342600-67347000	Weak transcription	Hela-S3	cervix
2	chr11:67344400-67350600	Enhancers	Stomach Mucosa	stomach
3	chr11:67345000-67348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:67345200-67347200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:67345400-67347400	Enhancers	Primary hematopoietic stem cells	blood
6	chr11:67345600-67350200	Enhancers	Fetal Intestine Small	intestine
7	chr11:67346000-67347000	Weak transcription	Gastric	stomach
8	chr11:67346000-67347200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:67346000-67347200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr11:67346000-67348600	Enhancers	Fetal Intestine Large	intestine
11	chr11:67346000-67348800	Weak transcription	Placenta	Placenta
12	chr11:67346200-67348000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:67346600-67347000	Enhancers	Duodenum Mucosa	Duodenum
14	chr11:67346600-67347000	Enhancers	K562	blood
15	chr11:67346600-67347200	Bivalent Enhancer	Dnd41	blood
16	chr11:67346600-67347200	Bivalent Enhancer	GM12878-XiMat	blood
17	chr11:67346600-67347400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:67346600-67347600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:67346600-67347600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr11:67346600-67347600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr11:67346600-67347600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr11:67346600-67347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:67346600-67347600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:67346600-67347600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
25	chr11:67346800-67347000	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
26	chr11:67346800-67347200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
27	chr11:67346800-67347200	Bivalent Enhancer	Primary T cells from cord blood	blood
28	chr11:67346800-67347200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:67346800-67347200	Flanking Active TSS	A549	lung
30	chr11:67346800-67347400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:67346800-67347400	Enhancers	Colonic Mucosa	Colon
32	chr11:67346800-67347400	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr11:67346800-67347400	Enhancers	Spleen	Spleen
34	chr11:67346800-67347600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr11:67346800-67347600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr11:67346800-67347600	Bivalent Enhancer	Primary B cells from cord blood	blood
37	chr11:67346800-67347600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr11:67346800-67347600	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr11:67346800-67347600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:67346800-67347600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr11:67346800-67347600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:67346800-67347600	Bivalent Enhancer	Fetal Thymus	thymus
43	chr11:67346800-67347600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:67346800-67347600	Flanking Active TSS	HepG2	liver
45	chr11:67346800-67347800	Enhancers	NH-A	brain
46	chr11:67346800-67350600	Enhancers	Pancreas	Pancrea
47	chr11:67346800-67351000	Enhancers	Liver	Liver

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