Variant report

Variant	rs11227770
Chromosome Location	chr11:67100570-67100571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67096916..67101342-chr11:67118793..67121143,4	MCF-7	breast:
2	chr11:67048105..67050364-chr11:67099799..67101928,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175482	Chromatin interaction
ENSG00000173020	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10896165	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11227671	0.87[AMR][1000 genomes]
rs11227689	0.87[AMR][1000 genomes]
rs11227695	0.87[AMR][1000 genomes]
rs11227696	1.00[AMR][1000 genomes]
rs11227703	0.87[AMR][1000 genomes]
rs11227713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs11227715	0.87[AMR][1000 genomes]
rs11227718	1.00[AMR][1000 genomes]
rs11227720	1.00[AMR][1000 genomes]
rs11227722	1.00[AMR][1000 genomes]
rs11227723	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes]
rs11227732	0.87[AMR][1000 genomes]
rs11227740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11227742	0.94[ASN][1000 genomes]
rs11227744	0.94[ASN][1000 genomes]
rs11227745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11227746	0.94[ASN][1000 genomes]
rs11227750	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227751	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11227752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11227755	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11227761	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227768	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227786	0.81[ASN][1000 genomes]
rs11227787	0.81[ASN][1000 genomes]
rs12223898	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12274774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs17847841	1.00[JPT][hapmap]
rs3730145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3892143	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55936319	0.87[AMR][1000 genomes]
rs56132056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58100805	0.94[ASN][1000 genomes]
rs59589410	0.87[AMR][1000 genomes]
rs61395951	0.87[AMR][1000 genomes]
rs61758503	1.00[AMR][1000 genomes]
rs61758508	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889551	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61889552	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61891307	0.87[AMR][1000 genomes]
rs61891316	0.87[AMR][1000 genomes]
rs61891317	0.87[AMR][1000 genomes]
rs61891340	1.00[AMR][1000 genomes]
rs61891342	0.87[AMR][1000 genomes]
rs61891343	1.00[AMR][1000 genomes]
rs61891344	0.87[AMR][1000 genomes]
rs61891346	0.87[AMR][1000 genomes]
rs61891586	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891588	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61891589	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61891590	0.86[ASN][1000 genomes]
rs61891592	0.83[ASN][1000 genomes]
rs6591234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7127431	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72926981	0.87[AMR][1000 genomes]
rs7927142	0.87[AMR][1000 genomes]
rs7946985	0.87[AMR][1000 genomes]
rs9630209	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	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
6	nsv468603	chr11:67033076-67164495	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
7	nsv555253	chr11:67033076-67164495	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS 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 target site	85 gene(s)	inside rSNPs	diseases
8	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
9	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
10	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
11	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67086000-67104400	Weak transcription	Aorta	Aorta
2	chr11:67086200-67101400	Weak transcription	Colonic Mucosa	Colon
3	chr11:67086200-67113600	Weak transcription	Osteobl	bone
4	chr11:67086400-67102800	Weak transcription	Liver	Liver
5	chr11:67086400-67104000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:67086400-67110200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:67086400-67111200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:67086400-67111600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:67086400-67112600	Weak transcription	Fetal Lung	lung
10	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
11	chr11:67086600-67100600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:67086600-67103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:67086600-67111200	Weak transcription	Primary B cells from cord blood	blood
14	chr11:67086600-67111200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:67086600-67118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:67086800-67101200	Weak transcription	A549	lung
17	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
18	chr11:67087000-67101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:67087000-67111800	Weak transcription	Gastric	stomach
20	chr11:67087000-67112800	Weak transcription	Hela-S3	cervix
21	chr11:67087000-67113400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr11:67087800-67113800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:67087800-67119000	Weak transcription	Fetal Brain Female	brain
24	chr11:67088000-67103000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:67088200-67101400	Weak transcription	Ovary	ovary
26	chr11:67088400-67100800	Weak transcription	Right Ventricle	heart
27	chr11:67089400-67116800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:67089800-67117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:67090000-67118600	Weak transcription	Brain Anterior Caudate	brain
30	chr11:67090200-67115400	Weak transcription	Lung	lung
31	chr11:67090400-67111200	Weak transcription	Spleen	Spleen
32	chr11:67090800-67111800	Weak transcription	Pancreas	Pancrea
33	chr11:67091000-67105800	Weak transcription	Brain Angular Gyrus	brain
34	chr11:67091200-67109400	Weak transcription	Fetal Stomach	stomach
35	chr11:67091400-67112800	Weak transcription	Esophagus	oesophagus
36	chr11:67095000-67105200	Weak transcription	Adipose Nuclei	Adipose
37	chr11:67096000-67100800	Weak transcription	Fetal Intestine Small	intestine
38	chr11:67096400-67111800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:67097800-67100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:67098000-67101600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:67098600-67101000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:67098600-67111800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:67098800-67101200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:67098800-67101800	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:67099000-67100600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:67099000-67100600	Enhancers	NHEK	skin
47	chr11:67099200-67118600	Weak transcription	Thymus	Thymus
48	chr11:67099600-67100800	Enhancers	HMEC	breast
49	chr11:67099600-67105000	Weak transcription	Left Ventricle	heart
50	chr11:67100200-67100600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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