Variant report

Variant	rs6799234
Chromosome Location	chr3:23580965-23580966
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:23566672..23568510-chr3:23579299..23582210,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11926646	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12486880	0.94[ASN][1000 genomes]
rs12637722	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1463836	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17013412	0.84[YRI][hapmap];0.89[EUR][1000 genomes]
rs17013457	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1874913	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2133330	0.84[CEU][hapmap];0.90[EUR][1000 genomes]
rs34710747	0.89[EUR][1000 genomes]
rs35169377	0.97[ASN][1000 genomes]
rs4399836	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4642064	0.89[EUR][1000 genomes]
rs55779138	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56132801	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56667039	0.97[ASN][1000 genomes]
rs57258152	0.89[EUR][1000 genomes]
rs57278918	0.89[EUR][1000 genomes]
rs57604595	0.89[EUR][1000 genomes]
rs57801020	0.86[EUR][1000 genomes]
rs57989144	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs58068931	0.89[EUR][1000 genomes]
rs58486254	0.89[EUR][1000 genomes]
rs61363919	0.90[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6550765	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs66900833	0.94[ASN][1000 genomes]
rs6775891	0.95[CHB][hapmap];0.90[JPT][hapmap];0.95[ASN][1000 genomes]
rs6775907	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6782079	0.95[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs6800822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs6801946	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6802488	0.95[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6804201	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73043636	0.88[EUR][1000 genomes]
rs73043687	0.89[EUR][1000 genomes]
rs73049414	0.88[ASN][1000 genomes]
rs7609845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7620266	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7624174	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7628135	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7628949	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7632814	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs7640458	0.84[CEU][hapmap];0.89[EUR][1000 genomes]
rs7643270	0.80[YRI][hapmap];0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9812300	0.84[CEU][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes]
rs9835324	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9854488	1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9873979	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23550800-23598600	Weak transcription	HSMMtube	muscle
2	chr3:23553000-23589600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:23567400-23589800	Weak transcription	Psoas Muscle	Psoas
4	chr3:23570600-23584400	Weak transcription	Primary T cells from cord blood	blood
5	chr3:23571200-23591600	Weak transcription	GM12878-XiMat	blood
6	chr3:23571400-23598800	Weak transcription	Adipose Nuclei	Adipose
7	chr3:23578800-23582600	Weak transcription	Primary B cells from cord blood	blood
8	chr3:23579200-23581000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:23580600-23581000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:23580800-23581200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:23580800-23584800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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