Variant report

Variant	rs6235
Chromosome Location	chr5:95728898-95728899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95728596..95730396-chr5:95732572..95735263,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10036439	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10040098	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs10213823	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10213965	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10476552	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10476553	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10515237	1.00[CEU][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs12332295	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13159579	1.00[CEU][hapmap]
rs13168460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13169290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085655	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17085658	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17085665	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17085675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882298	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35247507	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35648612	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36115340	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3811951	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59139497	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869253	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6890994	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7700417	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7713317	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7722200	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9285019	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Glycemic traits (pregnancy)	23903356	GWAS catalog
Proinsulin levels	21873549	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95720400-95732000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr5:95720800-95745400	Weak transcription	Brain Angular Gyrus	brain
3	chr5:95721000-95738400	Weak transcription	Hela-S3	cervix
4	chr5:95724000-95731000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:95727800-95731000	Weak transcription	Fetal Brain Female	brain
6	chr5:95728200-95730400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:95728200-95732600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:95728400-95737800	Weak transcription	HUVEC	blood vessel

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