Variant report

Variant	rs12791853
Chromosome Location	chr11:67031968-67031969
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr11:67031851-67032221	GM12891	blood:	n/a	n/a
2	NRF1	chr11:67031950-67032126	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
2	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
3	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
4	chr11:67030751..67032989-chr11:67210893..67212752,2	K562	blood:
5	chr11:67030115..67032131-chr11:67117040..67120376,3	K562	blood:
6	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
7	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:

No data

Variant related genes	Relation type
ADRBK1	TF binding region
ENSG00000172725	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000256514	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10736657	0.80[AMR][1000 genomes]
rs10896166	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10896167	0.83[GIH][hapmap]
rs11819783	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11819880	1.00[CEU][hapmap];0.86[CHB][hapmap]
rs12288048	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12788405	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12790040	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12805811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1558257	0.82[JPT][hapmap]
rs1638569	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17878756	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17883741	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790762	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1894112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1944096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2286619	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2298815	0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2429459	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2429463	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511057	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2514257	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2532605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2852875	0.86[ASN][1000 genomes]
rs34000912	0.82[ASN][1000 genomes]
rs34087937	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35176549	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35247976	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35821109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35876769	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35992831	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36085596	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3737460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3781943	0.83[GIH][hapmap]
rs4244822	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4255546	0.83[GIH][hapmap]
rs4375446	0.83[GIH][hapmap]
rs4478996	0.83[GIH][hapmap]
rs4930192	0.83[GIH][hapmap]
rs4930418	0.83[GIH][hapmap]
rs59551907	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs61734600	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6591241	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66466718	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66603590	0.84[ASN][1000 genomes]
rs674499	0.83[GIH][hapmap]
rs71457775	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7394531	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7934433	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs867193	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9326373	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9734588	1.00[EUR][1000 genomes];0.90[ASN][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	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	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
5	nsv897798	chr11:67024534-67065858	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv897799	chr11:67024534-67072623	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv897800	chr11:67024534-67086298	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028600-67032200	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:67028600-67033600	Enhancers	HMEC	breast
4	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
6	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
7	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
8	chr11:67029400-67033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:67029400-67033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:67029600-67033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:67029800-67033600	Enhancers	Fetal Thymus	thymus
12	chr11:67029800-67034000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:67030200-67032200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:67030200-67033200	Weak transcription	Ovary	ovary
15	chr11:67030400-67033200	Weak transcription	Fetal Brain Female	brain
16	chr11:67030400-67033400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:67030600-67032800	Weak transcription	Fetal Brain Male	brain
18	chr11:67030600-67033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:67030600-67033400	Weak transcription	Brain Germinal Matrix	brain
20	chr11:67030600-67033400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:67030600-67033400	Weak transcription	Fetal Kidney	kidney
22	chr11:67030600-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:67030600-67034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:67030800-67033000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:67030800-67033200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:67030800-67033200	Weak transcription	Brain Anterior Caudate	brain
27	chr11:67030800-67033200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:67030800-67033200	Weak transcription	Fetal Heart	heart
29	chr11:67030800-67033200	Weak transcription	Fetal Intestine Large	intestine
30	chr11:67030800-67033200	Weak transcription	Fetal Lung	lung
31	chr11:67030800-67033200	Weak transcription	Fetal Stomach	stomach
32	chr11:67030800-67033200	Weak transcription	Right Ventricle	heart
33	chr11:67030800-67033200	Weak transcription	Stomach Mucosa	stomach
34	chr11:67030800-67033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:67030800-67033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:67030800-67033400	Weak transcription	A549	lung
37	chr11:67030800-67033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:67030800-67033600	Weak transcription	Right Atrium	heart
39	chr11:67030800-67034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:67031000-67032200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:67031000-67032800	Weak transcription	HepG2	liver
42	chr11:67031000-67033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:67031000-67033200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:67031000-67033200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:67031000-67033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:67031000-67033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:67031000-67033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:67031000-67033200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:67031000-67033200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:67031000-67033200	Weak transcription	Brain Hippocampus Middle	brain

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