Variant report

Variant	rs2161581
Chromosome Location	chr5:42033155-42033156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10044526	1.00[EUR][1000 genomes]
rs10078494	0.82[ASN][1000 genomes]
rs1073273	0.82[ASN][1000 genomes]
rs1110874	0.82[ASN][1000 genomes]
rs1119855	0.84[ASN][1000 genomes]
rs11738449	1.00[EUR][1000 genomes]
rs11742939	1.00[EUR][1000 genomes]
rs11744111	0.81[EUR][1000 genomes]
rs12514243	0.82[ASN][1000 genomes]
rs12515833	0.80[ASN][1000 genomes]
rs12517161	0.82[ASN][1000 genomes]
rs12519296	0.86[CHB][hapmap]
rs13360765	0.98[EUR][1000 genomes]
rs1393017	0.86[CHB][hapmap]
rs1393018	0.86[CHB][hapmap]
rs16872061	0.80[CEU][hapmap]
rs16872094	1.00[EUR][1000 genomes]
rs16872097	1.00[EUR][1000 genomes]
rs16872099	1.00[EUR][1000 genomes]
rs16872100	0.96[EUR][1000 genomes]
rs16872111	0.96[EUR][1000 genomes]
rs16872114	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17586491	0.98[ASN][1000 genomes]
rs17586526	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs17586540	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs1813615	1.00[EUR][1000 genomes]
rs1813616	1.00[EUR][1000 genomes]
rs2011105	1.00[EUR][1000 genomes]
rs202299	1.00[ASN][1000 genomes]
rs2113053	0.91[EUR][1000 genomes]
rs2134102	0.82[ASN][1000 genomes]
rs276233	0.96[ASN][1000 genomes]
rs276234	0.96[ASN][1000 genomes]
rs276237	0.96[ASN][1000 genomes]
rs276238	0.91[ASN][1000 genomes]
rs276239	0.96[ASN][1000 genomes]
rs276240	0.96[ASN][1000 genomes]
rs276242	0.96[ASN][1000 genomes]
rs276243	0.96[ASN][1000 genomes]
rs276246	0.96[ASN][1000 genomes]
rs276270	0.94[ASN][1000 genomes]
rs276277	0.92[ASN][1000 genomes]
rs276289	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs276290	0.86[CHB][hapmap];0.94[ASN][1000 genomes]
rs276291	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs276294	1.00[ASN][1000 genomes]
rs276306	1.00[ASN][1000 genomes]
rs276307	1.00[ASN][1000 genomes]
rs276309	0.98[ASN][1000 genomes]
rs276311	1.00[ASN][1000 genomes]
rs276314	0.94[ASN][1000 genomes]
rs276315	1.00[ASN][1000 genomes]
rs34226693	0.96[ASN][1000 genomes]
rs3913458	0.82[ASN][1000 genomes]
rs4279375	0.86[ASN][1000 genomes]
rs4342369	1.00[ASN][1000 genomes]
rs4358567	1.00[ASN][1000 genomes]
rs4358568	0.96[ASN][1000 genomes]
rs4590218	1.00[ASN][1000 genomes]
rs4626371	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4957182	0.89[EUR][1000 genomes]
rs4957190	1.00[ASN][1000 genomes]
rs4957191	1.00[ASN][1000 genomes]
rs4957192	1.00[ASN][1000 genomes]
rs4957446	1.00[ASN][1000 genomes]
rs4957447	1.00[ASN][1000 genomes]
rs4957449	0.86[CHB][hapmap];1.00[ASN][1000 genomes]
rs4957464	0.80[ASN][1000 genomes]
rs58911119	0.81[ASN][1000 genomes]
rs59778370	1.00[EUR][1000 genomes]
rs6451589	1.00[ASN][1000 genomes]
rs6451592	0.82[ASN][1000 genomes]
rs666080	0.96[ASN][1000 genomes]
rs666581	0.81[EUR][1000 genomes]
rs6870241	1.00[EUR][1000 genomes]
rs72748623	0.91[EUR][1000 genomes]
rs72748626	0.91[EUR][1000 genomes]
rs72748630	0.98[EUR][1000 genomes]
rs72748631	0.94[EUR][1000 genomes]
rs72748633	1.00[EUR][1000 genomes]
rs72748635	1.00[EUR][1000 genomes]
rs72748636	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72748638	1.00[EUR][1000 genomes]
rs72748639	1.00[EUR][1000 genomes]
rs72748641	1.00[EUR][1000 genomes]
rs72748645	0.98[EUR][1000 genomes]
rs72748646	1.00[EUR][1000 genomes]
rs72748687	0.81[EUR][1000 genomes]
rs72748699	0.81[EUR][1000 genomes]
rs7341123	1.00[ASN][1000 genomes]
rs7708373	1.00[ASN][1000 genomes]
rs7708493	1.00[ASN][1000 genomes]
rs7713544	0.82[ASN][1000 genomes]
rs905097	0.82[ASN][1000 genomes]
rs905099	0.80[ASN][1000 genomes]
rs931230	0.80[ASN][1000 genomes]
rs931231	0.88[ASN][1000 genomes]
rs989747	1.00[EUR][1000 genomes]
rs990898	0.82[ASN][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	nsv830273	chr5:41867296-42066070	Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
2	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
3	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
4	nsv880627	chr5:41966551-42087954	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	esv1843569	chr5:42008999-42128184	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1032171	chr5:42015138-42220940	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv462125	chr5:42019110-42192620	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv597885	chr5:42019110-42192620	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42028400-42034600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:42032200-42033400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr5:42033000-42033200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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