Variant report

Variant	rs12619039
Chromosome Location	chr2:125935998-125935999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10167742	0.86[ASN][1000 genomes]
rs10178610	0.86[ASN][1000 genomes]
rs10178941	0.89[ASN][1000 genomes]
rs10188831	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201829	1.00[ASN][1000 genomes]
rs11123079	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11123081	1.00[ASN][1000 genomes]
rs12328802	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12466712	1.00[ASN][1000 genomes]
rs12477887	0.89[ASN][1000 genomes]
rs12711702	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13393788	1.00[ASN][1000 genomes]
rs13400338	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1369525	1.00[ASN][1000 genomes]
rs314888	1.00[ASN][1000 genomes]
rs314889	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314910	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314912	1.00[ASN][1000 genomes]
rs314913	1.00[ASN][1000 genomes]
rs314914	1.00[ASN][1000 genomes]
rs4276033	0.83[ASN][1000 genomes]
rs4359662	1.00[ASN][1000 genomes]
rs4438483	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505537	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4622728	0.96[CEU][hapmap];0.85[EUR][1000 genomes]
rs6722269	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6755508	1.00[ASN][1000 genomes]
rs7602423	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431646	chr2:125780602-126174341	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv874992	chr2:125817682-126046421	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv2903	chr2:125891467-125936267	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
4	nsv999840	chr2:125902993-126683646	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1012762	chr2:125902993-126755660	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv535915	chr2:125902993-126755660	ZNF genes & repeats Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1001555	chr2:125904415-126630781	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv535916	chr2:125904415-126630781	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv963881	chr2:125930176-125939639	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125933600-125943400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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