Variant report

Variant	rs56154430
Chromosome Location	chr12:59430962-59430963
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	chr12:59427199..59431136-chr12:59432633..59435371,3	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12367207	1.00[AFR][1000 genomes]
rs56159915	1.00[AFR][1000 genomes]
rs73118596	1.00[AFR][1000 genomes]
rs73118599	1.00[AFR][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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59425400-59433800	Weak transcription	Pancreas	Pancrea
2	chr12:59428800-59433600	Weak transcription	Esophagus	oesophagus
3	chr12:59429400-59431600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:59430000-59431000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:59430000-59431800	Enhancers	Stomach Mucosa	stomach
6	chr12:59430000-59432200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:59430000-59432200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:59430200-59431200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:59430200-59431400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:59430200-59431600	Enhancers	HMEC	breast
11	chr12:59430200-59431800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:59430400-59431800	Enhancers	Fetal Kidney	kidney
13	chr12:59430600-59431000	Enhancers	Small Intestine	intestine
14	chr12:59430600-59431000	Enhancers	Osteobl	bone
15	chr12:59430600-59431400	Enhancers	HUVEC	blood vessel
16	chr12:59430600-59431600	Enhancers	NH-A	brain
17	chr12:59430600-59432400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:59430600-59432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:59430800-59431000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:59430800-59431000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:59430800-59431000	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:59430800-59431000	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr12:59430800-59431000	Flanking Active TSS	NHDF-Ad	bronchial
24	chr12:59430800-59431400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:59430800-59431600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:59430800-59432200	Enhancers	HSMM	muscle

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