Variant report

Variant	rs11043281
Chromosome Location	chr12:122427966-122427967
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122427530..122430747-chr12:122431781..122435522,3	MCF-7	breast:
2	chr12:122427709..122429547-chr12:122437047..122438935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10840639	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10840640	0.94[ASN][1000 genomes]
rs10840641	0.86[ASN][1000 genomes]
rs11043249	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11043252	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[ASN][1000 genomes]
rs11043253	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs11043254	0.86[ASN][1000 genomes]
rs11043287	0.88[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12231594	0.98[ASN][1000 genomes]
rs2177330	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3741582	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3741586	1.00[CEU][hapmap]
rs58504997	0.86[ASN][1000 genomes]
rs59325626	0.86[ASN][1000 genomes]
rs6486783	1.00[CEU][hapmap]
rs6486785	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7294458	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7298520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs7316212	0.83[JPT][hapmap]
rs7969138	0.87[ASN][1000 genomes]
rs830127	1.00[CEU][hapmap];0.89[JPT][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122394000-122429800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:122409800-122428400	Weak transcription	NHEK	skin
5	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:122413200-122428800	Weak transcription	HSMMtube	muscle
8	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
9	chr12:122415400-122428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:122418800-122437600	Weak transcription	Spleen	Spleen
11	chr12:122419800-122429800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:122422200-122429800	Weak transcription	Thymus	Thymus
13	chr12:122422800-122428200	Weak transcription	Fetal Thymus	thymus
14	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
15	chr12:122423000-122428400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:122425000-122428200	Weak transcription	HepG2	liver
17	chr12:122427000-122428800	Enhancers	Fetal Stomach	stomach
18	chr12:122427200-122428600	Enhancers	GM12878-XiMat	blood
19	chr12:122427400-122428000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:122427600-122429800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:122427800-122428000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:122427800-122428600	Enhancers	A549	lung
23	chr12:122427800-122430800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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