Variant report

Variant	rs4075257
Chromosome Location	chr8:49773584-49773585
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1023768	1.00[CHD][hapmap]
rs11987465	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991224	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11994469	0.88[GIH][hapmap]
rs16938768	1.00[CHD][hapmap];0.87[TSI][hapmap]
rs16938992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3756	1.00[CHD][hapmap];0.88[GIH][hapmap]
rs3891522	0.87[GIH][hapmap];0.85[TSI][hapmap]
rs4129251	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56030902	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56054521	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56800165	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73577446	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73577471	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7464588	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7816893	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7831491	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9657079	0.93[EUR][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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv528067	chr8:49769454-49779947	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49765400-49776600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:49765600-49773600	Weak transcription	Fetal Brain Male	brain
3	chr8:49768200-49775200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:49771800-49776000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr8:49772000-49773600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:49772200-49773600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:49772800-49775800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:49772800-49777000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:49773000-49774800	Weak transcription	Fetal Kidney	kidney
10	chr8:49773000-49775600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:49773200-49775800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:49773200-49779200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr8:49773400-49773600	Enhancers	Right Atrium	heart
14	chr8:49773400-49774600	Weak transcription	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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