Variant report

Variant	rs10231252
Chromosome Location	chr7:12319951-12319952
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12319256..12322046-chr7:12323185..12326325,3	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10234185	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10235534	0.89[ASN][1000 genomes]
rs10245921	0.82[ASN][1000 genomes]
rs10272105	0.87[ASN][1000 genomes]
rs10279958	0.87[ASN][1000 genomes]
rs1030031	0.93[ASN][1000 genomes]
rs1116972	0.87[ASN][1000 genomes]
rs2024441	0.87[ASN][1000 genomes]
rs2098365	0.93[ASN][1000 genomes]
rs2192836	0.87[ASN][1000 genomes]
rs2192839	0.92[ASN][1000 genomes]
rs2356163	0.93[ASN][1000 genomes]
rs2356166	0.88[ASN][1000 genomes]
rs2356168	0.88[ASN][1000 genomes]
rs2356170	0.84[JPT][hapmap]
rs4721084	0.87[ASN][1000 genomes]
rs4721085	0.86[ASN][1000 genomes]
rs6460910	1.00[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6460911	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6460914	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6460928	0.81[JPT][hapmap]
rs6943503	0.92[ASN][1000 genomes]
rs6945190	0.87[ASN][1000 genomes]
rs717236	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7790790	0.88[ASN][1000 genomes]
rs7811925	0.86[ASN][1000 genomes]
rs918016	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs918019	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv1033704	chr7:12286225-12355773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv887629	chr7:12304555-12400837	ZNF genes & repeats Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1019021	chr7:12310445-12375516	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	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	chr7:12317800-12329400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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