Variant report

Variant	rs12112932
Chromosome Location	chr7:84472329-84472330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:84471463..84475053-chr7:84476999..84480448,4	K562	blood:
2	chr7:84465310..84468926-chr7:84469765..84473361,5	K562	blood:
3	chr7:84466265..84469196-chr7:84470899..84473576,3	K562	blood:

Variant related genes	Relation type
ENSG00000235243	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1534573	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17159549	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs17159573	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2190209	1.00[EUR][1000 genomes]
rs2286188	1.00[EUR][1000 genomes]
rs2293575	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2301939	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2372506	1.00[EUR][1000 genomes]
rs57189679	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57219677	0.90[AFR][1000 genomes]
rs58175686	0.82[AFR][1000 genomes]
rs58333240	0.82[AFR][1000 genomes]
rs58363308	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60041128	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60911534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61320605	1.00[EUR][1000 genomes]
rs6945304	0.83[CHB][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs6949793	0.81[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.82[LWK][hapmap];0.87[MKK][hapmap]
rs6961296	1.00[EUR][1000 genomes]
rs6968373	1.00[EUR][1000 genomes]
rs7794387	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs7801427	0.82[AFR][1000 genomes]
rs7801980	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7804530	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7811798	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9640953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9642190	1.00[EUR][1000 genomes]
rs9642194	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs987014	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv831049	chr7:84277599-84475710	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831050	chr7:84355996-84527261	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84467200-84476800	Weak transcription	K562	blood

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