Variant report

Variant	rs73042136
Chromosome Location	chr2:183748979-183748980
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11885629	1.00[EUR][1000 genomes]
rs11885833	1.00[EUR][1000 genomes]
rs11888086	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11892717	1.00[EUR][1000 genomes]
rs11896088	1.00[EUR][1000 genomes]
rs16823829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823945	1.00[EUR][1000 genomes]
rs16823948	1.00[EUR][1000 genomes]
rs16823949	1.00[EUR][1000 genomes]
rs16823966	1.00[EUR][1000 genomes]
rs4358084	1.00[EUR][1000 genomes]
rs55803212	1.00[EUR][1000 genomes]
rs55886059	1.00[EUR][1000 genomes]
rs56179717	1.00[EUR][1000 genomes]
rs56344408	1.00[EUR][1000 genomes]
rs56362542	1.00[EUR][1000 genomes]
rs57047150	1.00[EUR][1000 genomes]
rs58515193	1.00[EUR][1000 genomes]
rs59308931	1.00[EUR][1000 genomes]
rs60558126	1.00[EUR][1000 genomes]
rs60602756	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6733333	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736252	1.00[EUR][1000 genomes]
rs6757286	1.00[EUR][1000 genomes]
rs73037284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040079	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040083	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73040088	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042107	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042128	0.88[AFR][1000 genomes]
rs73042129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73042166	1.00[EUR][1000 genomes]
rs73046211	1.00[EUR][1000 genomes]
rs73046213	1.00[EUR][1000 genomes]
rs73046217	1.00[EUR][1000 genomes]
rs73046218	1.00[EUR][1000 genomes]
rs73046222	1.00[EUR][1000 genomes]
rs73046226	1.00[EUR][1000 genomes]
rs73046232	1.00[EUR][1000 genomes]
rs73046235	1.00[EUR][1000 genomes]
rs73046257	1.00[EUR][1000 genomes]
rs73046260	1.00[EUR][1000 genomes]
rs73048203	1.00[EUR][1000 genomes]
rs73980523	1.00[EUR][1000 genomes]
rs73980527	1.00[EUR][1000 genomes]
rs7558834	1.00[EUR][1000 genomes]
rs7561870	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584932	1.00[EUR][1000 genomes]
rs7601416	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7602182	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183747200-183749000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:183748200-183750600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:183748200-183758600	Weak transcription	Pancreas	Pancrea
4	chr2:183748400-183751000	Weak transcription	Right Ventricle	heart
5	chr2:183748800-183751600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:183748800-183758800	Weak transcription	Muscle Satellite Cultured Cells	--

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