Variant report

Variant	rs1684130
Chromosome Location	chr12:32202498-32202499
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	chr12:31867484..31869953-chr12:32200460..32203745,3	K562	blood:

Variant related genes	Relation type
ENSG00000151743	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1684131	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1684140	0.81[AFR][1000 genomes]
rs2630591	0.88[AFR][1000 genomes]
rs2630595	0.83[AFR][1000 genomes]
rs2668286	0.83[AFR][1000 genomes]
rs2683499	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs2683500	0.80[AFR][1000 genomes]
rs36174223	0.82[AFR][1000 genomes]
rs57655004	1.00[AMR][1000 genomes]
rs59685434	1.00[AMR][1000 genomes]
rs60387118	1.00[AMR][1000 genomes]
rs61353224	1.00[AMR][1000 genomes]
rs73294842	1.00[AMR][1000 genomes]
rs73294846	1.00[AMR][1000 genomes]
rs73294866	1.00[AMR][1000 genomes]
rs73294878	1.00[AMR][1000 genomes]
rs73294884	1.00[AMR][1000 genomes]
rs73294886	1.00[AMR][1000 genomes]
rs73294887	1.00[AMR][1000 genomes]
rs73298610	1.00[AMR][1000 genomes]
rs73298611	1.00[AMR][1000 genomes]
rs73298612	1.00[AMR][1000 genomes]
rs73298627	1.00[AMR][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	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
8	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32195200-32204600	Weak transcription	Right Atrium	heart
2	chr12:32199000-32207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:32200600-32204600	Weak transcription	HepG2	liver
4	chr12:32200800-32204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:32201600-32202800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:32201800-32203200	Enhancers	Ovary	ovary
7	chr12:32202000-32205800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:32202200-32204000	Weak transcription	Fetal Intestine Small	intestine

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