Variant report

Variant	rs235600
Chromosome Location	chr12:47034359-47034360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11183539	0.92[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11183547	0.89[AMR][1000 genomes]
rs11183550	0.91[AMR][1000 genomes]
rs12300125	0.84[ASN][1000 genomes]
rs12310635	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12320420	0.83[AMR][1000 genomes]
rs12581311	0.88[AMR][1000 genomes]
rs12582056	0.89[AMR][1000 genomes]
rs1946175	0.81[ASN][1000 genomes]
rs2042058	0.86[AMR][1000 genomes]
rs235601	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs235602	0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs235607	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs235610	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs235616	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs235617	0.93[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs235621	0.91[AMR][1000 genomes]
rs235622	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs235625	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs235626	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs235627	0.91[AMR][1000 genomes]
rs2471601	0.82[ASN][1000 genomes]
rs34008890	0.89[AMR][1000 genomes]
rs35096979	0.89[AMR][1000 genomes]
rs4768741	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4768742	0.89[AMR][1000 genomes]
rs4768744	0.88[AMR][1000 genomes]
rs57370043	0.88[AMR][1000 genomes]
rs58561072	0.86[AMR][1000 genomes]
rs61641663	0.86[AMR][1000 genomes]
rs7310408	0.89[AMR][1000 genomes]
rs73282109	0.91[AMR][1000 genomes]
rs7484802	0.97[AMR][1000 genomes]
rs977069	0.88[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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558783	chr12:46996632-47144856	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv692	chr12:47018472-47049495	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv1844378	chr12:47028797-47072016	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv3372339	chr12:47028885-47034683	Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47026000-47035200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:47032800-47042000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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