Variant report

Variant	rs2429462
Chromosome Location	chr11:67098932-67098933
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67096916..67101342-chr11:67118793..67121143,4	MCF-7	breast:
2	chr11:67068995..67070973-chr11:67097061..67099234,2	MCF-7	breast:
3	chr11:67084192..67086617-chr11:67097875..67100359,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172830	Chromatin interaction
ENSG00000175482	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10896167	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896168	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10896169	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227788	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11601700	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11608094	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12276833	0.82[AMR][1000 genomes]
rs12788752	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1540135	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1558256	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1638566	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1638567	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1638571	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1638574	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1790733	0.82[AFR][1000 genomes]
rs1790740	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2071007	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2256154	0.87[ASN][1000 genomes]
rs2429460	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2514256	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2514258	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3781941	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3781942	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3781943	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3909168	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3927807	0.80[EUR][1000 genomes]
rs4024520	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4255546	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4503557	0.81[AFR][1000 genomes]
rs4930192	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4930197	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4930418	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56337023	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs674499	0.83[EUR][1000 genomes]
rs7106352	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7480390	0.89[ASN][1000 genomes]
rs872109	0.89[ASN][1000 genomes]
rs872110	0.82[EUR][1000 genomes];0.88[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	chr11:67086400-67100400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:67086400-67102800	Weak transcription	Liver	Liver
6	chr11:67086400-67104000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:67086400-67110200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr11:67086400-67111200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr11:67086400-67111600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:67086400-67112600	Weak transcription	Fetal Lung	lung
11	chr11:67086400-67120000	Weak transcription	Brain Germinal Matrix	brain
12	chr11:67086600-67099600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:67086600-67100600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:67086600-67103800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:67086600-67111200	Weak transcription	Primary B cells from cord blood	blood
16	chr11:67086600-67111200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr11:67086600-67118400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:67086800-67099000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:67086800-67099000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:67086800-67100200	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:67086800-67101200	Weak transcription	A549	lung
22	chr11:67086800-67118800	Weak transcription	Fetal Brain Male	brain
23	chr11:67087000-67099000	Weak transcription	NHEK	skin
24	chr11:67087000-67100400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:67087000-67101200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:67087000-67111800	Weak transcription	Gastric	stomach
27	chr11:67087000-67112800	Weak transcription	Hela-S3	cervix
28	chr11:67087000-67113400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:67087800-67113800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:67087800-67119000	Weak transcription	Fetal Brain Female	brain
31	chr11:67088000-67103000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:67088200-67101400	Weak transcription	Ovary	ovary
33	chr11:67088400-67100800	Weak transcription	Right Ventricle	heart
34	chr11:67089400-67116800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:67089800-67117000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:67090000-67100200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:67090000-67118600	Weak transcription	Brain Anterior Caudate	brain
38	chr11:67090200-67115400	Weak transcription	Lung	lung
39	chr11:67090400-67111200	Weak transcription	Spleen	Spleen
40	chr11:67090800-67111800	Weak transcription	Pancreas	Pancrea
41	chr11:67091000-67105800	Weak transcription	Brain Angular Gyrus	brain
42	chr11:67091200-67109400	Weak transcription	Fetal Stomach	stomach
43	chr11:67091400-67100200	Weak transcription	Fetal Intestine Large	intestine
44	chr11:67091400-67100400	Weak transcription	Duodenum Mucosa	Duodenum
45	chr11:67091400-67112800	Weak transcription	Esophagus	oesophagus
46	chr11:67093800-67099600	Weak transcription	Fetal Kidney	kidney
47	chr11:67095000-67105200	Weak transcription	Adipose Nuclei	Adipose
48	chr11:67096000-67100800	Weak transcription	Fetal Intestine Small	intestine
49	chr11:67096400-67111800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:67097800-67100600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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