Variant report

Variant	rs11830915
Chromosome Location	chr12:122416730-122416731
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	chr12:122415297..122419092-chr12:122458561..122460890,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1110123	1.00[GIH][hapmap]
rs11829393	1.00[GIH][hapmap];0.85[YRI][hapmap]
rs11832557	0.89[ASW][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12316702	0.89[ASW][hapmap]
rs13378033	0.85[YRI][hapmap]
rs7296744	1.00[GIH][hapmap]
rs73415630	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415646	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs73415652	0.93[AFR][1000 genomes];0.80[AMR][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:25 , 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	chr12:122403400-122417200	Weak transcription	NHDF-Ad	bronchial
4	chr12:122406200-122416800	Weak transcription	K562	blood
5	chr12:122406600-122418200	Weak transcription	Osteobl	bone
6	chr12:122409800-122427200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr12:122409800-122428400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:122409800-122428400	Weak transcription	NHEK	skin
9	chr12:122410000-122428600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:122411400-122416800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:122411400-122418000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:122411600-122418200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:122411600-122418400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122412800-122430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:122413000-122417000	Weak transcription	Fetal Thymus	thymus
16	chr12:122413000-122417600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122413200-122417000	Weak transcription	Thymus	Thymus
18	chr12:122413200-122417800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:122413200-122418000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:122413200-122428800	Weak transcription	HSMMtube	muscle
21	chr12:122413400-122417200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr12:122415200-122434800	Weak transcription	Pancreas	Pancrea
23	chr12:122415400-122428400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:122416600-122417200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:122416600-122418200	Enhancers	Primary B cells from peripheral blood	blood

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