Variant report

Variant	rs73178129
Chromosome Location	chr13:47689300-47689301
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:47687420..47689651-chr13:47689739..47691291,2	K562	blood:
2	chr13:47687158..47689535-chr13:47689573..47691245,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11617108	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428041	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1431769	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58706600	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61952794	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61952795	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61952817	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9526275	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9534555	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[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	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3394678	chr13:47678184-48039379	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv2483982	chr13:47688819-47690364	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv5610	chr13:47689217-47690055	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2244372	chr13:47689296-47689989	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47683800-47695200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:47685800-47694800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr13:47686600-47695200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:47687000-47689600	Enhancers	NHDF-Ad	bronchial
5	chr13:47687400-47693400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:47687600-47691800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:47688200-47690000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:47688200-47691800	Weak transcription	K562	blood
9	chr13:47688200-47695800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:47688400-47693200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr13:47688600-47691400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr13:47688600-47691800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:47688600-47692600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:47688600-47693400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr13:47688600-47694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:47688600-47694600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:47688600-47694600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:47688800-47693200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr13:47688800-47695600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr13:47689000-47691400	Weak transcription	Osteobl	bone
21	chr13:47689000-47691600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:47689200-47690000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:47689200-47691200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:47689200-47691200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr13:47689200-47691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:47689200-47693200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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