Variant report

Variant	rs73412012
Chromosome Location	chr12:87523597-87523598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:87512190..87514558-chr12:87523597..87525941,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17014350	1.00[AMR][1000 genomes]
rs17040813	1.00[AMR][1000 genomes]
rs56350179	1.00[AFR][1000 genomes]
rs59500185	1.00[AMR][1000 genomes]
rs60069679	1.00[AMR][1000 genomes]
rs61951460	1.00[AMR][1000 genomes]
rs67651962	1.00[AFR][1000 genomes]
rs73393740	1.00[AMR][1000 genomes]
rs73393778	1.00[AMR][1000 genomes]
rs73400125	1.00[AMR][1000 genomes]
rs73400158	1.00[AMR][1000 genomes]
rs73408641	1.00[AMR][1000 genomes]
rs73408682	1.00[AMR][1000 genomes]
rs73410067	1.00[AMR][1000 genomes]
rs73410102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412009	1.00[AMR][1000 genomes]
rs73412014	1.00[AMR][1000 genomes]
rs73412072	1.00[AMR][1000 genomes]
rs73412073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412076	1.00[AMR][1000 genomes]
rs73412087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73412099	1.00[AFR][1000 genomes]
rs73414089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73414185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754127	chr12:86723232-87576932	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv916862	chr12:86837694-87718558	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899397	chr12:86863041-87636831	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868879	chr12:87207243-87578373	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1052693	chr12:87219949-87573582	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv899403	chr12:87225050-87528020	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv899406	chr12:87233995-87528020	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv519543	chr12:87307329-87528020	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv899410	chr12:87319908-87528020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv899415	chr12:87442480-87528020	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv899416	chr12:87442480-87588533	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv899417	chr12:87475632-87588533	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1036043	chr12:87503257-87592799	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv1054581	chr12:87510821-87669648	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87514600-87524400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:87521400-87529600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:87521400-87535000	Weak transcription	Fetal Heart	heart
4	chr12:87521600-87524200	Enhancers	Fetal Brain Male	brain

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