Variant report

Variant	rs2281002
Chromosome Location	chr1:171080629-171080630
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10797878	0.86[ASN][1000 genomes]
rs10911664	0.82[ASN][1000 genomes]
rs10911839	0.82[GIH][hapmap]
rs10911841	0.82[GIH][hapmap]
rs1157459	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12072547	0.86[ASN][1000 genomes]
rs12072717	0.86[ASN][1000 genomes]
rs12080672	0.84[ASN][1000 genomes]
rs12086786	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12089338	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12402693	1.00[ASW][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap]
rs12404183	0.82[CHD][hapmap];0.83[MEX][hapmap]
rs12404218	0.82[CHD][hapmap];0.83[MEX][hapmap]
rs16863990	1.00[ASW][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap]
rs16864094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1800822	1.00[ASN][1000 genomes]
rs1920152	0.82[GIH][hapmap]
rs1983550	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064079	0.82[GIH][hapmap]
rs2064080	0.82[GIH][hapmap]
rs2235192	0.86[ASN][1000 genomes]
rs2235194	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2281004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28363528	0.91[ASN][1000 genomes]
rs28363533	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28363535	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28363557	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28363560	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28363597	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4140653	0.83[EUR][1000 genomes]
rs56672667	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56809838	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60447684	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61420043	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66880604	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66963071	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67495591	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68071659	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72712662	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs742057	0.82[ASN][1000 genomes]
rs742058	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs909529	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs909532	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9970391	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9970392	0.84[ASN][1000 genomes]
rs9970495	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171077600-171081800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:171079000-171081000	Enhancers	NHLF	lung
3	chr1:171079400-171080800	Genic enhancers	Liver	Liver
4	chr1:171079400-171080800	Enhancers	Right Atrium	heart
5	chr1:171079400-171081000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:171079600-171080800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:171079600-171082800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:171079800-171080800	Enhancers	Fetal Stomach	stomach
9	chr1:171079800-171081000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:171079800-171081000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:171079800-171081200	Enhancers	Adipose Nuclei	Adipose
12	chr1:171079800-171082000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:171080000-171080800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:171080000-171080800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:171080000-171081000	Enhancers	Osteobl	bone
16	chr1:171080000-171081400	Enhancers	Fetal Lung	lung
17	chr1:171080200-171083200	Weak transcription	Aorta	Aorta
18	chr1:171080400-171080800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:171080400-171081000	Weak transcription	Small Intestine	intestine
20	chr1:171080400-171081000	Bivalent Enhancer	NHDF-Ad	bronchial
21	chr1:171080600-171081200	Active TSS	Fetal Brain Male	brain

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