Variant report

Variant	rs1920154
Chromosome Location	chr1:171097008-171097009
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10911192	0.85[CHB][hapmap];0.88[CHD][hapmap]
rs10911839	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911841	0.93[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912425	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1157459	0.85[GIH][hapmap]
rs11811455	0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16864094	0.85[GIH][hapmap]
rs16864096	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920144	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1920151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920152	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1920153	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064079	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064080	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235193	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236872	0.83[EUR][1000 genomes]
rs2236873	0.82[EUR][1000 genomes]
rs2281003	0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs2281004	0.85[GIH][hapmap]
rs4916390	0.90[ASN][1000 genomes]
rs58365744	0.87[ASN][1000 genomes]
rs67522662	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7881379	0.87[ASN][1000 genomes]
rs7885012	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs909530	0.82[EUR][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171091000-171098200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:171091600-171109000	Weak transcription	Right Ventricle	heart
3	chr1:171092600-171097200	Weak transcription	Aorta	Aorta
4	chr1:171092600-171097200	Weak transcription	Lung	lung
5	chr1:171092800-171097200	Weak transcription	Left Ventricle	heart
6	chr1:171092800-171097400	Weak transcription	Pancreas	Pancrea
7	chr1:171095400-171097200	Enhancers	Adipose Nuclei	Adipose
8	chr1:171095400-171097400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:171095800-171097200	Weak transcription	Esophagus	oesophagus
10	chr1:171095800-171097200	Enhancers	Fetal Lung	lung
11	chr1:171095800-171097400	Enhancers	NHDF-Ad	bronchial
12	chr1:171095800-171097600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:171095800-171098000	Enhancers	NHLF	lung
14	chr1:171096000-171097200	Enhancers	Colon Smooth Muscle	Colon
15	chr1:171096000-171097200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:171096000-171097200	Weak transcription	Gastric	stomach
17	chr1:171096000-171097600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:171096000-171097600	Enhancers	NH-A	brain
19	chr1:171096200-171097800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:171096200-171098000	Enhancers	Osteobl	bone
21	chr1:171096400-171097400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:171096600-171097400	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:171096600-171098000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:171096600-171098000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:171097000-171097400	Enhancers	Fetal Muscle Leg	muscle
26	chr1:171097000-171098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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