Variant report

Variant	rs4975300
Chromosome Location	chr4:129160316-129160317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:129157638..129160508-chr4:129163340..129166117,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10002814	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098953	0.80[EUR][1000 genomes]
rs11733374	0.89[ASN][1000 genomes]
rs12505763	0.86[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12510308	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12511648	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13103695	0.89[ASN][1000 genomes]
rs1403125	0.89[ASN][1000 genomes]
rs1522432	0.89[ASN][1000 genomes]
rs1851400	0.84[ASN][1000 genomes]
rs1948506	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2140107	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34174952	0.89[ASN][1000 genomes]
rs4624668	0.89[ASN][1000 genomes]
rs4975220	0.84[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs4975299	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60515985	0.82[ASN][1000 genomes]
rs6534672	0.83[GIH][hapmap]
rs6534674	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6534675	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816625	0.80[EUR][1000 genomes]
rs7679633	0.89[ASN][1000 genomes]
rs7688852	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7691103	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390887	chr4:128932563-129207255	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129149800-129161800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:129151000-129161600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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