Variant report

Variant	rs12126355
Chromosome Location	chr1:85891874-85891875
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10873700	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11161595	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11161604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11161613	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11590830	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12116463	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12122154	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12123722	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12136295	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12143626	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1523998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17127201	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17127231	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127399	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17127565	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[EUR][1000 genomes]
rs2235990	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2284798	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28816748	0.91[EUR][1000 genomes]
rs56888838	0.91[EUR][1000 genomes]
rs7553530	0.94[EUR][1000 genomes]
rs9658588	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85874000-85903800	Weak transcription	NHLF	lung
2	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:85874400-85903600	Weak transcription	HepG2	liver
4	chr1:85874400-85904200	Weak transcription	NH-A	brain
5	chr1:85883200-85893400	Weak transcription	Aorta	Aorta
6	chr1:85886400-85899000	Weak transcription	NHDF-Ad	bronchial
7	chr1:85886400-85903800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:85886400-85914200	Weak transcription	HSMMtube	muscle
9	chr1:85886800-85897200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:85886800-85903800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:85887200-85893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:85887600-85902200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:85887600-85903400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:85888600-85893400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:85889800-85892400	Enhancers	HUVEC	blood vessel
16	chr1:85889800-85893000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:85890000-85894200	Weak transcription	HSMM	muscle
18	chr1:85890400-85902200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:85890600-85892000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:85891000-85897200	Weak transcription	Fetal Brain Female	brain
21	chr1:85891200-85893000	Weak transcription	Liver	Liver
22	chr1:85891600-85893600	Enhancers	Fetal Lung	lung
23	chr1:85891600-85897200	Weak transcription	Osteobl	bone
24	chr1:85891800-85894000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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