Variant report

Variant	rs6735708
Chromosome Location	chr2:30603987-30603988
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30598739..30601179-chr2:30602874..30604412,2	K562	blood:
2	chr2:30453659..30455818-chr2:30603684..30605946,2	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10514771	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11127274	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11127275	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11885821	0.88[EUR][1000 genomes]
rs11885871	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11889918	0.87[EUR][1000 genomes]
rs12468604	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12471197	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12471227	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12471481	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12475327	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12988691	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12989601	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13017527	0.87[EUR][1000 genomes]
rs13029614	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13034878	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1357851	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34145247	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34600627	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs35211324	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4572642	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4613331	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56375234	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6706101	0.87[EUR][1000 genomes]
rs6710587	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6712757	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6719566	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6723368	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6726574	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6748329	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748436	0.87[EUR][1000 genomes]
rs6752411	0.87[EUR][1000 genomes]
rs7599885	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs894787	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30603200-30604400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:30603600-30604600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:30603800-30604000	Enhancers	NHDF-Ad	bronchial

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