Variant report

Variant	rs12360547
Chromosome Location	chr11:86430031-86430032
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86429406..86432561-chr11:86511034..86513037,4	MCF-7	breast:
2	chr11:86383130..86385721-chr11:86429395..86432301,2	MCF-7	breast:
3	chr11:86419484..86423460-chr11:86424969..86430597,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10501629	1.00[CHB][hapmap]
rs10898527	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898528	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898531	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs10898535	1.00[CHB][hapmap]
rs11234753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234760	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234761	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234765	0.94[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes]
rs11234767	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11234768	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11234778	1.00[CHB][hapmap]
rs11234798	1.00[CHB][hapmap]
rs11234799	1.00[CHB][hapmap]
rs11234806	1.00[CHB][hapmap]
rs11234818	1.00[CHB][hapmap]
rs11602353	1.00[CHB][hapmap]
rs11607392	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11608167	1.00[CHB][hapmap]
rs12786875	1.00[CHB][hapmap]
rs12787853	1.00[CHB][hapmap]
rs12791740	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12793595	1.00[CHB][hapmap]
rs12805405	1.00[CHB][hapmap]
rs17159941	1.00[CHB][hapmap]
rs17758195	1.00[CHB][hapmap]
rs17758206	1.00[CHB][hapmap]
rs17758334	1.00[CHB][hapmap]
rs17758376	1.00[CHB][hapmap]
rs17758400	1.00[CHB][hapmap]
rs17819945	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17820139	1.00[CHB][hapmap]
rs1815753	1.00[CHB][hapmap]
rs2000538	1.00[CHB][hapmap]
rs2105587	1.00[CHB][hapmap]
rs34343472	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592313	1.00[CHB][hapmap]
rs6592314	1.00[CHB][hapmap]
rs7105597	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108254	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128682	1.00[CHB][hapmap]
rs7128805	1.00[CHB][hapmap]
rs71465652	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
3	chr11:86408000-86431400	Weak transcription	Aorta	Aorta
4	chr11:86424200-86449800	Weak transcription	Pancreas	Pancrea
5	chr11:86425000-86430800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:86425000-86434600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:86427000-86430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:86427800-86431000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:86428000-86431200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:86428600-86431800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:86428600-86433400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:86428600-86433400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:86428600-86433600	Enhancers	HMEC	breast
14	chr11:86428800-86430600	Enhancers	A549	lung
15	chr11:86428800-86431200	Enhancers	HSMM	muscle
16	chr11:86428800-86432400	Enhancers	HUVEC	blood vessel
17	chr11:86428800-86433600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:86428800-86433600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr11:86428800-86433600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:86428800-86433600	Enhancers	NHEK	skin
21	chr11:86428800-86433800	Enhancers	NHDF-Ad	bronchial
22	chr11:86429000-86430200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:86429000-86430200	Enhancers	NHLF	lung
24	chr11:86429000-86433800	Enhancers	Osteobl	bone
25	chr11:86429200-86430200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:86429200-86430400	Enhancers	Esophagus	oesophagus
27	chr11:86429200-86433200	Enhancers	Hela-S3	cervix
28	chr11:86429200-86433600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:86429400-86430600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:86429400-86430600	Weak transcription	HSMMtube	muscle
31	chr11:86429400-86432000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:86429600-86431800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:86429600-86433400	Enhancers	NH-A	brain
34	chr11:86429800-86430800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:86430000-86430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:86430000-86431000	Weak transcription	Placenta Amnion	Placenta Amnion

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