Variant report

Variant	rs12639835
Chromosome Location	chr4:110325349-110325350
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	chr4:110324031..110326803-chr4:110333857..110336450,2	K562	blood:

Variant related genes	Relation type
ENSG00000247950	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10488879	0.84[ASN][1000 genomes]
rs10516557	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11098033	0.83[EUR][1000 genomes]
rs11098035	1.00[EUR][1000 genomes]
rs11934486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935440	0.85[EUR][1000 genomes]
rs11935629	0.85[EUR][1000 genomes]
rs11937053	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11938593	0.85[EUR][1000 genomes]
rs11941636	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11942928	0.85[EUR][1000 genomes]
rs11943384	0.85[EUR][1000 genomes]
rs11943430	0.85[EUR][1000 genomes]
rs11944375	0.85[EUR][1000 genomes]
rs11944659	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12639832	0.85[EUR][1000 genomes]
rs12640161	1.00[EUR][1000 genomes]
rs12641472	0.88[ASN][1000 genomes]
rs12642304	0.84[EUR][1000 genomes]
rs12643844	0.93[EUR][1000 genomes]
rs12643881	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12644055	0.85[EUR][1000 genomes]
rs12647695	0.85[EUR][1000 genomes]
rs12648138	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12650654	0.85[EUR][1000 genomes]
rs12650873	0.85[EUR][1000 genomes]
rs13128221	0.96[ASN][1000 genomes]
rs17040410	0.85[EUR][1000 genomes]
rs17040446	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17040454	0.97[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17040512	0.96[ASN][1000 genomes]
rs17040519	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28527792	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28611124	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61439452	0.85[EUR][1000 genomes]
rs61553525	0.85[EUR][1000 genomes]
rs6533429	0.85[EUR][1000 genomes]
rs6815455	0.85[EUR][1000 genomes]
rs6821051	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6821221	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6823032	0.97[EUR][1000 genomes]
rs6851517	0.85[EUR][1000 genomes]
rs72892766	0.80[EUR][1000 genomes]
rs72896619	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896622	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72896625	1.00[EUR][1000 genomes]
rs72896629	1.00[EUR][1000 genomes]
rs7436745	0.85[EUR][1000 genomes]
rs7440371	0.85[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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1799708	chr4:110309234-110333106	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	6 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	chr4:110311200-110327800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:110311600-110331400	Weak transcription	HSMMtube	muscle

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