Variant report

Variant	rs2020870
Chromosome Location	chr1:171154959-171154960
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12121072	0.81[ASN][1000 genomes]
rs12124505	0.81[ASN][1000 genomes]
rs12126946	0.81[ASN][1000 genomes]
rs12563218	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12750404	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2072756	0.81[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2075989	0.81[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs28369789	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28369802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28369803	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28369818	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28369863	0.81[ASN][1000 genomes]
rs28369865	0.82[ASN][1000 genomes]
rs28369918	0.81[ASN][1000 genomes]
rs28384819	0.81[ASN][1000 genomes]
rs6677549	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6700357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6700359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74122249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7518693	1.00[ASW][hapmap];0.89[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7527067	0.81[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7527478	0.81[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7539639	0.82[ASN][1000 genomes]
rs7542361	0.81[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.82[ASN][1000 genomes]
rs7549095	0.91[YRI][hapmap]
rs7551282	0.81[ASN][1000 genomes]
rs7556029	1.00[ASW][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7884276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7887919	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171153400-171159000	Active TSS	Aorta	Aorta
2	chr1:171153600-171155000	Enhancers	Fetal Stomach	stomach
3	chr1:171154000-171159600	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:171154200-171155000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:171154200-171155000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:171154200-171155200	Flanking Active TSS	Fetal Lung	lung
7	chr1:171154200-171156600	Active TSS	Stomach Smooth Muscle	stomach
8	chr1:171154200-171156600	Active TSS	NHLF	lung
9	chr1:171154200-171157400	Active TSS	Adipose Nuclei	Adipose
10	chr1:171154200-171158800	Active TSS	Psoas Muscle	Psoas
11	chr1:171154200-171159000	Active TSS	Left Ventricle	heart
12	chr1:171154200-171160800	Active TSS	Right Atrium	heart
13	chr1:171154400-171155000	Active TSS	Brain Hippocampus Middle	brain
14	chr1:171154400-171155000	Active TSS	Colon Smooth Muscle	Colon
15	chr1:171154400-171155000	Active TSS	Rectal Smooth Muscle	rectum
16	chr1:171154400-171155000	Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr1:171154400-171156600	Active TSS	Esophagus	oesophagus
18	chr1:171154400-171156600	Active TSS	Lung	lung
19	chr1:171154400-171156600	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr1:171154400-171156800	Active TSS	Right Ventricle	heart
21	chr1:171154600-171155000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:171154600-171157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:171154600-171157600	Weak transcription	Osteobl	bone
24	chr1:171154800-171155000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:171154800-171157600	Weak transcription	Ovary	ovary

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