Variant report

Variant	rs74134874
Chromosome Location	chr1:197755912-197755913
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:197744666..197746774-chr1:197753008..197755981,2	K562	blood:
2	chr1:197747186..197749989-chr1:197754169..197755959,2	MCF-7	breast:
3	chr1:197743450..197746320-chr1:197754020..197756173,2	MCF-7	breast:
4	chr1:197751597..197753233-chr1:197754046..197756710,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213047	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs16841857	1.00[AMR][1000 genomes]
rs55828314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55873850	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57221255	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57319710	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57805974	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58603417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58666162	1.00[AMR][1000 genomes]
rs58959432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59214900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59396394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59498839	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60625077	1.00[AMR][1000 genomes]
rs60873643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60890417	1.00[AMR][1000 genomes]
rs61374501	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134509	1.00[AMR][1000 genomes]
rs74134849	1.00[AMR][1000 genomes]
rs74134857	1.00[AMR][1000 genomes]
rs74134858	1.00[AMR][1000 genomes]
rs74134859	1.00[AMR][1000 genomes]
rs74134862	1.00[AMR][1000 genomes]
rs74134865	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134866	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134868	0.82[AFR][1000 genomes]
rs74134869	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134870	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137409	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv947369	chr1:197750549-197778118	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197745200-197756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:197751600-197756000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:197752400-197756200	Weak transcription	Esophagus	oesophagus
4	chr1:197753400-197756200	Weak transcription	Osteobl	bone
5	chr1:197753600-197756000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:197755000-197756000	Enhancers	NHEK	skin
7	chr1:197755000-197757200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:197755000-197757200	Enhancers	HMEC	breast
9	chr1:197755000-197757400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:197755200-197757600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:197755400-197756600	Enhancers	NHDF-Ad	bronchial
12	chr1:197755600-197756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:197755800-197757200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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