Variant report

Variant	rs12469439
Chromosome Location	chr2:178852662-178852663
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	chr2:178852131..178854988-chr2:178855154..178857922,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10930814	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs11695211	0.86[ASN][1000 genomes]
rs12463866	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12615720	0.88[ASN][1000 genomes]
rs1369519	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1369520	0.82[CHB][hapmap];0.87[ASN][1000 genomes]
rs1405643	0.86[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1405644	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1405645	0.81[CHB][hapmap];0.90[ASN][1000 genomes]
rs1405646	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1435575	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs1534290	0.85[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16865995	0.85[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16866042	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1821628	0.87[ASN][1000 genomes]
rs1880915	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2020213	0.81[CHB][hapmap]
rs2037757	0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2099476	0.90[JPT][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2217839	0.82[CHB][hapmap];0.90[ASN][1000 genomes]
rs2252726	0.85[CHB][hapmap]
rs2573080	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs2573081	0.87[ASN][1000 genomes]
rs2573083	0.86[CHB][hapmap]
rs2573085	0.84[ASN][1000 genomes]
rs2573088	0.81[CHB][hapmap];0.89[ASN][1000 genomes]
rs2695094	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2695103	0.81[CHB][hapmap];0.87[ASN][1000 genomes]
rs2695104	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2695111	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695112	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695729	0.95[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2695735	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2695738	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695743	0.86[CHB][hapmap]
rs2695744	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs2695746	0.87[CHB][hapmap]
rs2695747	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2695750	0.81[CHB][hapmap]
rs2695754	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695760	0.89[ASN][1000 genomes]
rs3108453	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs3108476	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4893847	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62185280	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6433705	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6745288	0.86[ASN][1000 genomes]
rs6753870	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7573622	0.86[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs934807	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs959157	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs959792	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3367225	chr2:178837494-178853153	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv583712	chr2:178843950-178857169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv521228	chr2:178845469-178856900	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv583718	chr2:178845469-178857169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv583731	chr2:178845755-178857169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv583736	chr2:178851177-178857169	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178850000-178853200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:178850000-178854000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:178850000-178854200	Weak transcription	Fetal Intestine Large	intestine

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