Variant report

Variant	rs12414648
Chromosome Location	chr10:90569427-90569428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:90341886..90344388-chr10:90569050..90571986,2	MCF-7	breast:
2	chr10:89576342..89578923-chr10:90569116..90571697,2	K562	blood:

Variant related genes	Relation type
ENSG00000223820	Chromatin interaction
ENSG00000184719	Chromatin interaction
ENSG00000138138	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1029024	0.94[ASN][1000 genomes]
rs1029025	0.94[ASN][1000 genomes]
rs10509555	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12257540	1.00[ASN][1000 genomes]
rs12412357	0.85[AMR][1000 genomes]
rs12412604	0.81[AMR][1000 genomes]
rs12412903	0.81[AMR][1000 genomes]
rs12413277	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12414211	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12414800	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1339780	0.85[AMR][1000 genomes]
rs1339781	0.85[AMR][1000 genomes]
rs17112748	0.85[AMR][1000 genomes]
rs17112781	0.85[AMR][1000 genomes]
rs17112872	0.85[AMR][1000 genomes]
rs17112956	0.85[AMR][1000 genomes]
rs17112974	0.85[AMR][1000 genomes]
rs17113067	0.85[AMR][1000 genomes]
rs17113082	0.85[AMR][1000 genomes]
rs17113129	0.85[AMR][1000 genomes]
rs17113165	0.85[AMR][1000 genomes]
rs17113311	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17113344	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17113363	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs17113426	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2282122	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3814691	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4933485	0.85[AMR][1000 genomes]
rs4934421	0.85[AMR][1000 genomes]
rs4934422	0.85[AMR][1000 genomes]
rs56848106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56998609	1.00[ASN][1000 genomes]
rs57259051	0.92[AMR][1000 genomes]
rs57934910	0.85[AMR][1000 genomes]
rs58036732	0.85[AMR][1000 genomes]
rs58986570	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs59254861	0.85[AMR][1000 genomes]
rs59661152	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60040082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60523093	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv831941	chr10:90410488-90587332	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv1043015	chr10:90467067-90593692	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	nsv467415	chr10:90478483-90600865	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
7	nsv551840	chr10:90478483-90600865	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90560800-90569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:90564600-90569600	Weak transcription	NHEK	skin
3	chr10:90564600-90569800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:90564800-90569600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr10:90565800-90569800	Weak transcription	A549	lung
6	chr10:90566000-90569600	Weak transcription	Hela-S3	cervix
7	chr10:90566200-90569600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:90569200-90570800	Enhancers	Fetal Thymus	thymus
9	chr10:90569400-90570600	Enhancers	Thymus	Thymus

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