Variant report

Variant	rs2630595
Chromosome Location	chr12:32207043-32207044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12307256	1.00[AMR][1000 genomes]
rs12824940	1.00[AMR][1000 genomes]
rs1684130	0.83[AFR][1000 genomes]
rs1684131	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1684140	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668289	1.00[AMR][1000 genomes]
rs2683498	1.00[AMR][1000 genomes]
rs2683499	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2683500	1.00[AMR][1000 genomes]
rs36174223	1.00[AMR][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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr12:32199000-32207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32204200-32207600	Enhancers	K562	blood
3	chr12:32205200-32207200	Enhancers	A549	lung
4	chr12:32206400-32207600	Enhancers	HepG2	liver
5	chr12:32206400-32208400	ZNF genes & repeats	Dnd41	blood
6	chr12:32206400-32208600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:32206600-32208000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:32207000-32207600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:32207000-32207800	ZNF genes & repeats	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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