Variant report

Variant	rs72906704
Chromosome Location	chr2:54255225-54255226
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10181332	0.87[EUR][1000 genomes]
rs10190353	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10193846	0.89[EUR][1000 genomes]
rs10199995	0.94[AMR][1000 genomes]
rs10496027	0.84[AFR][1000 genomes]
rs1049894	0.83[AMR][1000 genomes]
rs11884857	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886366	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11887593	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11889527	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11903396	0.84[AFR][1000 genomes]
rs11904365	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13382454	0.82[AFR][1000 genomes]
rs13395751	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13401491	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417051	0.83[AMR][1000 genomes]
rs13432387	0.83[AMR][1000 genomes]
rs2112120	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2161083	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28571698	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs28699646	0.83[AMR][1000 genomes]
rs3930909	0.82[AFR][1000 genomes]
rs41536750	0.83[AMR][1000 genomes]
rs58920915	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60776154	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715161	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6719990	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6723722	0.88[AMR][1000 genomes]
rs6730494	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6745729	0.83[AMR][1000 genomes]
rs6748686	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72904915	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72906711	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906714	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72906778	0.89[EUR][1000 genomes]
rs72906786	0.89[EUR][1000 genomes]
rs72906787	0.89[EUR][1000 genomes]
rs7556936	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559651	0.94[AMR][1000 genomes]
rs7583508	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588134	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7588319	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608085	0.83[AMR][1000 genomes]
rs9678301	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv963232	chr2:54249008-54261054	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 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	chr2:54240200-54257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr2:54243800-54255400	Weak transcription	HepG2	liver
3	chr2:54243800-54268000	Weak transcription	Osteobl	bone
4	chr2:54243800-54268400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:54243800-54269800	Weak transcription	Brain Anterior Caudate	brain
6	chr2:54246800-54275200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:54248400-54256800	Weak transcription	Pancreas	Pancrea
8	chr2:54248400-54257400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:54248600-54256800	Weak transcription	Psoas Muscle	Psoas
10	chr2:54248600-54278000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:54248600-54289800	Weak transcription	Fetal Lung	lung
12	chr2:54248800-54275600	Weak transcription	Primary B cells from cord blood	blood
13	chr2:54250000-54257600	Weak transcription	Gastric	stomach
14	chr2:54250000-54257600	Weak transcription	Left Ventricle	heart
15	chr2:54251600-54263800	Weak transcription	Primary T cells from cord blood	blood
16	chr2:54252600-54258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:54254600-54256800	Weak transcription	Ovary	ovary
18	chr2:54254600-54267400	Weak transcription	Brain Substantia Nigra	brain
19	chr2:54254600-54269800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:54254800-54256600	Weak transcription	Fetal Heart	heart
21	chr2:54254800-54269600	Weak transcription	Colon Smooth Muscle	Colon

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