Variant report

Variant	rs1548958
Chromosome Location	chr12:12426747-12426748
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12418815..12421655-chr12:12424332..12429486,6	MCF-7	breast:
2	chr12:12420270..12422598-chr12:12424124..12428048,6	K562	blood:
3	chr12:12418368..12422296-chr12:12423665..12427518,5	K562	blood:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10431232	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431303	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743981	0.94[EUR][1000 genomes]
rs1074992	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1074993	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10772544	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10845498	0.88[EUR][1000 genomes]
rs10845504	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845505	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11054752	0.94[EUR][1000 genomes]
rs1468878	0.88[EUR][1000 genomes]
rs16907810	0.85[EUR][1000 genomes]
rs2160589	0.92[EUR][1000 genomes]
rs2417090	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4265667	0.92[EUR][1000 genomes]
rs4494380	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4619236	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4763789	0.92[EUR][1000 genomes]
rs61130413	0.85[EUR][1000 genomes]
rs7134001	0.92[EUR][1000 genomes]
rs7136380	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7295656	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296283	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7310538	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311987	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7313285	0.92[EUR][1000 genomes]
rs7968660	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12421000-12436600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:12421200-12428800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:12425600-12426800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:12425800-12426800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:12425800-12426800	Enhancers	Ovary	ovary
6	chr12:12425800-12427000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:12426000-12426800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:12426000-12427000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:12426200-12431800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:12426400-12426800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:12426600-12426800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:12426600-12426800	Enhancers	Osteobl	bone
13	chr12:12426600-12427600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:12426600-12428600	Weak transcription	HepG2	liver
15	chr12:12426600-12429000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:12426600-12429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:12426600-12433200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:12426600-12435200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:12426600-12435400	Weak transcription	NHDF-Ad	bronchial

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