Variant report

Variant	rs10930130
Chromosome Location	chr2:151351313-151351314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10169336	0.82[ASN][1000 genomes]
rs10177711	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10497060	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10803791	0.99[ASN][1000 genomes]
rs1108155	0.82[ASN][1000 genomes]
rs11686078	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12692718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12692720	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12692722	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12692729	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12692739	0.84[ASN][1000 genomes]
rs12692740	0.84[ASN][1000 genomes]
rs12692747	0.91[ASN][1000 genomes]
rs12692748	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13011082	0.84[ASN][1000 genomes]
rs13011088	0.97[ASN][1000 genomes]
rs13012155	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13031372	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1569158	0.99[ASN][1000 genomes]
rs1609302	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1852688	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1852689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1852690	0.84[ASN][1000 genomes]
rs1919142	0.95[ASN][1000 genomes]
rs2222760	0.84[ASN][1000 genomes]
rs6432778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6432779	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6432791	0.95[ASN][1000 genomes]
rs6721757	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6722263	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6735265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6757626	0.84[ASN][1000 genomes]
rs72865991	0.83[ASN][1000 genomes]
rs7561737	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7586782	0.97[ASN][1000 genomes]
rs7600506	0.97[ASN][1000 genomes]
rs7603369	0.86[ASN][1000 genomes]
rs7605020	0.95[ASN][1000 genomes]
rs7609510	0.97[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	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv532473	chr2:151164210-151701860	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv834414	chr2:151209374-151413309	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151344000-151352000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:151344200-151351800	Weak transcription	HMEC	breast
3	chr2:151344200-151352600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:151344400-151352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:151344600-151352000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:151348200-151352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:151348800-151351800	Weak transcription	NH-A	brain
8	chr2:151349000-151351800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:151349200-151352000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:151349200-151352200	Weak transcription	HSMMtube	muscle
11	chr2:151349200-151352400	Weak transcription	HUVEC	blood vessel
12	chr2:151349600-151351400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:151350000-151352800	Enhancers	Osteobl	bone
14	chr2:151350600-151351400	Flanking Active TSS	Fetal Heart	heart
15	chr2:151350600-151351800	Enhancers	Liver	Liver
16	chr2:151350600-151352000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:151350600-151352200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:151350600-151352200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:151350600-151352200	Enhancers	Hela-S3	cervix
20	chr2:151350600-151352800	Enhancers	NHDF-Ad	bronchial
21	chr2:151350600-151353000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:151350800-151351400	Enhancers	Fetal Lung	lung
23	chr2:151350800-151352200	Enhancers	A549	lung
24	chr2:151350800-151352800	Enhancers	NHLF	lung
25	chr2:151351200-151352000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:151351200-151352200	Enhancers	HSMM	muscle
27	chr2:151351200-151352800	Enhancers	NHEK	skin

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