Variant report

Variant	rs12515833
Chromosome Location	chr5:42111100-42111101
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10037143	0.91[ASN][1000 genomes]
rs10078494	0.95[ASN][1000 genomes]
rs10461734	0.81[ASN][1000 genomes]
rs10461735	0.81[ASN][1000 genomes]
rs1073273	0.95[ASN][1000 genomes]
rs1110874	0.91[ASN][1000 genomes]
rs1119855	0.96[ASN][1000 genomes]
rs12514243	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12517161	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12519296	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12520405	0.86[AMR][1000 genomes]
rs12522095	0.90[AMR][1000 genomes]
rs1393017	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1393018	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs1501515	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1501528	0.96[ASN][1000 genomes]
rs17586526	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs17586540	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1875430	0.87[ASN][1000 genomes]
rs1909950	0.90[AMR][1000 genomes]
rs202299	0.80[ASN][1000 genomes]
rs2134102	0.95[ASN][1000 genomes]
rs2161581	0.80[ASN][1000 genomes]
rs276233	0.84[ASN][1000 genomes]
rs276234	0.84[ASN][1000 genomes]
rs276237	0.84[ASN][1000 genomes]
rs276239	0.84[ASN][1000 genomes]
rs276240	0.84[ASN][1000 genomes]
rs276242	0.84[ASN][1000 genomes]
rs276243	0.84[ASN][1000 genomes]
rs276246	0.84[ASN][1000 genomes]
rs276270	0.85[ASN][1000 genomes]
rs276277	0.87[ASN][1000 genomes]
rs276289	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs276290	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs276291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs276294	0.80[ASN][1000 genomes]
rs276306	0.80[ASN][1000 genomes]
rs276307	0.80[ASN][1000 genomes]
rs276311	0.80[ASN][1000 genomes]
rs276315	0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs36072701	0.84[AMR][1000 genomes]
rs3913458	0.95[ASN][1000 genomes]
rs4342369	0.80[ASN][1000 genomes]
rs4358567	0.80[ASN][1000 genomes]
rs4401612	0.95[ASN][1000 genomes]
rs4590218	0.80[ASN][1000 genomes]
rs4626371	1.00[ASN][1000 genomes]
rs4866812	0.84[AMR][1000 genomes]
rs4957190	0.80[ASN][1000 genomes]
rs4957191	0.80[ASN][1000 genomes]
rs4957192	0.80[ASN][1000 genomes]
rs4957446	0.80[ASN][1000 genomes]
rs4957447	0.80[ASN][1000 genomes]
rs4957449	1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[ASN][1000 genomes]
rs4957464	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58911119	0.93[ASN][1000 genomes]
rs59253992	0.84[AFR][1000 genomes]
rs59667660	0.84[AFR][1000 genomes]
rs6451589	0.80[ASN][1000 genomes]
rs6451592	0.95[ASN][1000 genomes]
rs666080	0.84[ASN][1000 genomes]
rs6890248	0.81[ASN][1000 genomes]
rs7341123	0.80[ASN][1000 genomes]
rs7379247	0.83[AMR][1000 genomes]
rs7380353	0.86[AMR][1000 genomes]
rs7708373	0.80[ASN][1000 genomes]
rs7708493	0.80[ASN][1000 genomes]
rs7713544	0.95[ASN][1000 genomes]
rs905097	0.91[ASN][1000 genomes]
rs905099	1.00[ASN][1000 genomes]
rs9292843	0.81[ASN][1000 genomes]
rs931230	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs931231	0.87[ASN][1000 genomes]
rs990898	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42109600-42111400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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