Variant report

Variant	rs3758941
Chromosome Location	chr11:67276235-67276236
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	ELK1	chr11:67275414-67276303	GM12878	blood:	n/a	n/a
2	MAX	chr11:67275086-67276571	ECC-1	luminal epithelium:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
3	ATF3	chr11:67275964-67276378	H1-hESC	embryonic stem cell:	n/a	chr11:67276173-67276181 chr11:67276171-67276182 chr11:67275976-67275985 chr11:67276173-67276183
4	MYC	chr11:67275560-67276394	NB4	blood:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
5	HEY1	chr11:67275220-67276297	K562	blood:	n/a	chr11:67275567-67275582
6	POLR2A	chr11:67275318-67276354	GM10847	blood:	n/a	n/a
7	RFX5	chr11:67275438-67276421	GM12878	blood:	n/a	chr11:67276242-67276257 chr11:67276247-67276256 chr11:67276250-67276258 chr11:67276241-67276258 chr11:67276242-67276257 chr11:67276242-67276257 chr11:67276244-67276259 chr11:67276245-67276259 chr11:67275782-67275791
8	MYC	chr11:67275472-67276315	MCF10A-Er-Src	breast:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
9	POLR2A	chr11:67275158-67276496	H1-neurons	neurons:	n/a	n/a
10	MAX	chr11:67275018-67276525	ECC-1	luminal epithelium:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
11	JUN	chr11:67275987-67276332	H1-hESC	embryonic stem cell:	n/a	chr11:67276199-67276208
12	BRCA1	chr11:67275889-67276300	H1-hESC	embryonic stem cell:	n/a	n/a
13	NFE2	chr11:67276128-67276293	GM12878	blood:	n/a	n/a
14	SIN3A	chr11:67275041-67276518	H1-hESC	embryonic stem cell:	n/a	chr11:67275613-67275624
15	YY1	chr11:67275837-67276479	K562	blood:	n/a	chr11:67275865-67275879 chr11:67275939-67275950 chr11:67275837-67275851 chr11:67276071-67276085
16	CHD1	chr11:67275884-67276385	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:67275230-67276465	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:67275079-67276522	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr11:67275916-67276288	GM12891	blood:	n/a	n/a
20	ETS1	chr11:67275195-67276280	K562	blood:	n/a	chr11:67275672-67275683 chr11:67275947-67275956 chr11:67275641-67275654
21	MAX	chr11:67275281-67276408	HepG2	liver:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
22	SP1	chr11:67275355-67276288	H1-hESC	embryonic stem cell:	n/a	chr11:67275910-67275922 chr11:67276155-67276164 chr11:67275789-67275800 chr11:67276154-67276166 chr11:67275907-67275921 chr11:67275912-67275921 chr11:67275772-67275793 chr11:67275618-67275639 chr11:67275732-67275753
23	PBX3	chr11:67275377-67276365	A549	lung:	n/a	chr11:67275713-67275733 chr11:67275782-67275791
24	CREB1	chr11:67275930-67276324	A549	lung:	n/a	n/a
25	POLR2A	chr11:67275180-67276370	GM18951	blood:	n/a	n/a
26	SIN3A	chr11:67275144-67276474	GM12878	blood:	n/a	chr11:67275613-67275624
27	MYC	chr11:67276210-67276244	GM12878	blood:	n/a	n/a
28	HMGN3	chr11:67275052-67276413	K562	blood:	n/a	n/a
29	PML	chr11:67274958-67276372	K562	blood:	n/a	n/a
30	FOXA1	chr11:67276037-67276382	T-47D	breast:	n/a	n/a
31	POLR2A	chr11:67275393-67276321	HepG2	liver:	n/a	n/a
32	SMARCC1	chr11:67275902-67276719	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:67275206-67276321	GM18505	blood:	n/a	n/a
34	RCOR1	chr11:67275109-67276679	K562	blood:	n/a	n/a
35	POLR2A	chr11:67275031-67276397	GM12892	blood:	n/a	n/a
36	MAX	chr11:67275091-67276454	MCF-7	breast:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
37	MAFK	chr11:67275694-67276418	K562	blood:	n/a	n/a
38	ZNF143	chr11:67275158-67276332	Hela-S3	cervix:	n/a	chr11:67275974-67275984 chr11:67275427-67275445
39	CTCF	chr11:67276112-67276324	Spleen_OC	spleen:	n/a	n/a
40	MAZ	chr11:67275220-67276406	Hela-S3	cervix:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
41	POLR2A	chr11:67275956-67276358	SK-N-SH	brain:	n/a	n/a
42	MXI1	chr11:67274743-67276763	IMR90	lung:	n/a	chr11:67276241-67276256 chr11:67276243-67276258
43	MAZ	chr11:67275339-67276415	HepG2	liver:	n/a	chr11:67276247-67276256 chr11:67276243-67276252
44	ATF3	chr11:67275891-67276416	A549	lung:	n/a	chr11:67276173-67276181 chr11:67276171-67276182 chr11:67275976-67275985 chr11:67276173-67276183
45	CREB1	chr11:67275058-67276529	H1-hESC	embryonic stem cell:	n/a	n/a
46	KAP1	chr11:67275932-67276501	U2OS	brain:	n/a	n/a
47	SIN3AK20	chr11:67275030-67276623	MCF-7	breast:	n/a	n/a
48	CREB1	chr11:67275383-67276550	GM12878	blood:	n/a	n/a
49	ZNF143	chr11:67275161-67276343	GM12878	blood:	n/a	chr11:67275974-67275984 chr11:67275427-67275445
50	FOXP2	chr11:67275212-67276389	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67118066..67122624-chr11:67272137..67276691,11	MCF-7	breast:
2	chr11:67247191..67252288-chr11:67270350..67277699,12	MCF-7	breast:
3	chr11:67206947..67211030-chr11:67273670..67277577,4	MCF-7	breast:
4	chr11:67276093..67277600-chr11:67406899..67409147,2	MCF-7	breast:
5	chr11:67157498..67160851-chr11:67271704..67276538,6	K562	blood:
6	chr11:67230107..67238941-chr11:67268499..67277838,23	MCF-7	breast:
7	chr11:67274110..67276658-chr11:67374314..67376513,2	K562	blood:
8	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
9	chr11:67167808..67170779-chr11:67274850..67277472,4	MCF-7	breast:
10	chr11:67266460..67268680-chr11:67274631..67276596,2	MCF-7	breast:
11	chr11:67234712..67238016-chr11:67274176..67276331,3	K562	blood:
12	chr11:67269882..67273775-chr11:67275933..67278364,3	MCF-7	breast:
13	chr11:67158769..67160682-chr11:67274736..67276408,2	MCF-7	breast:
14	chr11:67274528..67277767-chr11:67349958..67353064,4	K562	blood:
15	chr11:67139414..67143301-chr11:67273275..67276817,6	MCF-7	breast:
16	chr11:67275432..67276413-chr14:67826329..67827115,2	Hela-S3	cervix:
17	chr11:67255717..67258681-chr11:67274499..67276548,2	K562	blood:
18	chr11:67194364..67200337-chr11:67272800..67277654,9	MCF-7	breast:
19	chr11:67201204..67205243-chr11:67272634..67278205,5	MCF-7	breast:
20	chr11:67270685..67273123-chr11:67274247..67277444,3	K562	blood:
21	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:
22	chr11:67275491..67276477-chr15:65588318..65589141,2	HCT-116	colon:
23	chr11:67232230..67238185-chr11:67272105..67277120,9	K562	blood:
24	chr11:67201617..67208575-chr11:67270788..67277143,13	K562	blood:
25	chr11:67275111..67277928-chr11:67348479..67351408,2	MCF-7	breast:

Variant related genes	Relation type
PITPNM1	TF binding region
CDK2AP2	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000167800	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000172531	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000172725	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000175634	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000100554	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000172613	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000134001	Chromatin interaction
ENSG00000175463	Chromatin interaction
ENSG00000255949	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000213402	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1272686	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2035186	1.00[CHB][hapmap]
rs3815364	0.86[JPT][hapmap]
rs45129	0.93[EUR][1000 genomes]
rs594729	0.93[EUR][1000 genomes]
rs597463	0.93[EUR][1000 genomes]
rs604904	0.93[EUR][1000 genomes]
rs612189	0.93[EUR][1000 genomes]
rs627956	0.95[EUR][1000 genomes]
rs672432	1.00[GIH][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs682208	0.93[EUR][1000 genomes]
rs685407	0.93[EUR][1000 genomes]
rs687058	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs687343	0.93[EUR][1000 genomes]
rs687376	1.00[GIH][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	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
4	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
5	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
6	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
7	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
12	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
13	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
14	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
15	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
17	nsv527056	chr11:67207426-67294308	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
18	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
19	nsv1052919	chr11:67252337-67306030	Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
20	nsv541078	chr11:67252337-67306030	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3758941	GSTP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67270600-67276600	Enhancers	Fetal Heart	heart
2	chr11:67271000-67276800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:67272600-67276400	Enhancers	Fetal Brain Male	brain
4	chr11:67273400-67276600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:67273600-67276800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr11:67274400-67276600	Active TSS	Left Ventricle	heart
7	chr11:67274400-67277000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:67274600-67276600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr11:67274600-67276600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr11:67274800-67276400	Active TSS	Aorta	Aorta
11	chr11:67274800-67276400	Active TSS	Fetal Kidney	kidney
12	chr11:67274800-67276600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr11:67274800-67276600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr11:67274800-67276600	Active TSS	A549	lung
15	chr11:67274800-67276800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:67274800-67276800	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:67275000-67276400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:67275000-67276400	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:67275000-67276400	Active TSS	Small Intestine	intestine
20	chr11:67275000-67276400	Active TSS	GM12878-XiMat	blood
21	chr11:67275000-67276600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:67275000-67276600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:67275200-67276400	Active TSS	H1 Cell Line	embryonic stem cell
24	chr11:67275200-67276400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:67275200-67276400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:67275200-67276400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:67275200-67276400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:67275200-67276400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr11:67275200-67276400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr11:67275200-67276400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:67275200-67276400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:67275200-67276400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:67275200-67276400	Active TSS	Brain Angular Gyrus	brain
34	chr11:67275200-67276400	Active TSS	Brain Hippocampus Middle	brain
35	chr11:67275200-67276400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:67275200-67276400	Active TSS	Brain Substantia Nigra	brain
37	chr11:67275200-67276400	Active TSS	Colon Smooth Muscle	Colon
38	chr11:67275200-67276400	Active TSS	Gastric	stomach
39	chr11:67275200-67276400	Active TSS	Lung	lung
40	chr11:67275200-67276400	Bivalent/Poised TSS	HepG2	liver
41	chr11:67275200-67276400	Active TSS	K562	blood
42	chr11:67275200-67276600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:67275200-67276600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:67275200-67276600	Active TSS	Brain Anterior Caudate	brain
45	chr11:67275200-67276600	Active TSS	Ovary	ovary
46	chr11:67275200-67276600	Active TSS	Psoas Muscle	Psoas
47	chr11:67275200-67276600	Active TSS	Rectal Smooth Muscle	rectum
48	chr11:67275200-67276600	Active TSS	NHDF-Ad	bronchial
49	chr11:67275200-67276800	Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr11:67275200-67276800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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