Variant report

Variant	rs12088571
Chromosome Location	chr1:185931384-185931385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10489717	1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10489718	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911783	1.00[EUR][1000 genomes]
rs10911784	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs10911785	1.00[EUR][1000 genomes]
rs10911787	1.00[EUR][1000 genomes]
rs10911788	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10911789	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10911790	1.00[EUR][1000 genomes]
rs11586768	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs11587002	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11589455	0.84[ASW][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11800990	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs11804668	1.00[EUR][1000 genomes]
rs12057384	1.00[EUR][1000 genomes]
rs12066427	1.00[MEX][hapmap]
rs12067376	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12068599	0.86[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12068829	0.86[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12095309	0.94[EUR][1000 genomes]
rs1407427	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs1555494	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16824945	1.00[GIH][hapmap]
rs28696376	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28792457	0.94[AMR][1000 genomes]
rs41397650	1.00[ASW][hapmap];1.00[TSI][hapmap]
rs4288554	1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58291464	1.00[EUR][1000 genomes]
rs58610258	0.94[EUR][1000 genomes]
rs6425011	1.00[GIH][hapmap];1.00[TSI][hapmap]
rs6662653	1.00[TSI][hapmap]
rs6695626	1.00[CEU][hapmap]
rs72703022	1.00[EUR][1000 genomes]
rs72703023	1.00[EUR][1000 genomes]
rs72718866	1.00[EUR][1000 genomes]
rs72718868	1.00[EUR][1000 genomes]
rs72718870	1.00[EUR][1000 genomes]
rs7539719	0.85[TSI][hapmap];0.81[EUR][1000 genomes]
rs7546152	1.00[TSI][hapmap];1.00[EUR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185895200-185932200	Weak transcription	Aorta	Aorta
2	chr1:185924200-185940800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:185925200-185931800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:185925800-185931800	Enhancers	NHDF-Ad	bronchial
5	chr1:185926800-185933600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:185926800-185939000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:185927600-185938400	Weak transcription	Adipose Nuclei	Adipose
8	chr1:185928000-185933600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:185928000-185933600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:185929400-185933600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:185929600-185931400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:185929600-185931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:185929600-185931400	Enhancers	Fetal Kidney	kidney
14	chr1:185929600-185931400	Enhancers	Fetal Muscle Leg	muscle
15	chr1:185929600-185931600	Enhancers	NHLF	lung
16	chr1:185929600-185931800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:185929600-185931800	Enhancers	Fetal Lung	lung
18	chr1:185930000-185931400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:185930000-185935000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:185930200-185931600	Enhancers	HMEC	breast
21	chr1:185930400-185933600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:185930600-185938400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:185930600-185938400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:185931000-185931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:185931200-185931400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:185931200-185931400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:185931200-185931800	Enhancers	Fetal Stomach	stomach
28	chr1:185931200-185933600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:185931200-185934800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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