Variant report

Variant	rs11231119
Chromosome Location	chr11:62264202-62264203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62263893..62266128-chr11:62309249..62311326,26	MCF-7	breast:
2	chr11:62263870..62269326-chr11:62305524..62310974,8	MCF-7	breast:
3	chr11:62263349..62265762-chr11:62273214..62274854,2	K562	blood:
4	chr11:62260014..62261952-chr11:62263448..62265149,2	K562	blood:
5	chr11:62262841..62270580-chr11:62309307..62316157,15	MCF-7	breast:
6	chr11:62264064..62269761-chr11:62316551..62324170,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124942	Chromatin interaction
ENSG00000257058	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10897285	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231108	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231109	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231110	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231111	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231112	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11231115	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231116	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231120	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231121	1.00[ASN][1000 genomes]
rs11819950	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11822224	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826756	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11827029	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12223424	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12271287	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273682	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273757	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12273761	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289932	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12291022	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12294680	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157332	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17157338	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17157363	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17157365	0.91[ASN][1000 genomes]
rs35117866	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3867144	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4124	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56234858	0.91[ASN][1000 genomes]
rs56973213	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57973105	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59295893	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7105793	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7124044	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7127582	0.86[AMR][1000 genomes]
rs73500219	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929818	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946258	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
5	nsv345	chr11:62225251-62270254	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62231200-62264600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:62247800-62264600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:62247800-62266600	Weak transcription	Esophagus	oesophagus
4	chr11:62247800-62272600	Weak transcription	Aorta	Aorta
5	chr11:62248600-62264600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:62249000-62264600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:62256400-62264600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:62257400-62267000	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:62257400-62267000	Weak transcription	Fetal Stomach	stomach
10	chr11:62257600-62264400	Weak transcription	Adipose Nuclei	Adipose
11	chr11:62257600-62264600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:62257600-62264600	Weak transcription	Left Ventricle	heart
13	chr11:62257600-62264600	Weak transcription	NH-A	brain
14	chr11:62257600-62267000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr11:62258200-62266800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr11:62258400-62267000	Weak transcription	Right Atrium	heart
17	chr11:62259000-62264600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:62259200-62267000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:62259600-62264600	Weak transcription	Placenta	Placenta
20	chr11:62260000-62264600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:62260000-62264800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr11:62260200-62264400	Weak transcription	K562	blood
23	chr11:62262200-62264400	Weak transcription	NHDF-Ad	bronchial
24	chr11:62263400-62271800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:62263600-62264600	Enhancers	Hela-S3	cervix
26	chr11:62263600-62264600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr11:62263600-62267200	Enhancers	HepG2	liver
28	chr11:62264200-62265000	Enhancers	Fetal Intestine Large	intestine
29	chr11:62264200-62265200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:62264200-62265800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:62264200-62265800	Enhancers	A549	lung
32	chr11:62264200-62266400	Enhancers	Fetal Intestine Small	intestine

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