Variant report

Variant	rs61950663
Chromosome Location	chr12:86653302-86653303
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12304593	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12305255	0.89[AMR][1000 genomes]
rs12306280	0.83[EUR][1000 genomes]
rs12306726	0.89[AMR][1000 genomes]
rs12316480	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12582690	0.85[EUR][1000 genomes]
rs1389296	0.83[AMR][1000 genomes]
rs17288772	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17289052	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17359446	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17367374	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17367869	0.90[EUR][1000 genomes]
rs55649116	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55733909	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55820226	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55832610	0.81[AMR][1000 genomes]
rs55886852	0.81[AMR][1000 genomes]
rs55956857	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55998036	0.81[AMR][1000 genomes]
rs56293486	0.86[EUR][1000 genomes]
rs57624840	0.81[AMR][1000 genomes]
rs58024273	0.83[AMR][1000 genomes]
rs59623111	0.81[AMR][1000 genomes]
rs60436792	0.86[EUR][1000 genomes]
rs61133374	0.90[EUR][1000 genomes]
rs61948967	0.81[AMR][1000 genomes]
rs61948994	0.86[AMR][1000 genomes]
rs61949011	0.94[AMR][1000 genomes]
rs61949013	0.89[AMR][1000 genomes]
rs61949036	0.86[AMR][1000 genomes]
rs61949037	0.89[AMR][1000 genomes]
rs61949038	0.91[AMR][1000 genomes]
rs61949039	0.89[AMR][1000 genomes]
rs61949041	0.86[AMR][1000 genomes]
rs61949045	0.91[AMR][1000 genomes]
rs61949047	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61949048	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61949049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61949475	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61949482	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs61949483	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs61950665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61950667	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61950671	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61950674	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61950706	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61950711	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61950712	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs61950713	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61950714	0.88[EUR][1000 genomes]
rs61950746	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61950747	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61950748	0.90[EUR][1000 genomes]
rs61950749	0.90[EUR][1000 genomes]
rs767898	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2761759	chr12:86415936-86747726	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv518059	chr12:86416212-86747726	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1041397	chr12:86438607-86737558	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1053087	chr12:86569126-86733418	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv541564	chr12:86569126-86733418	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1037003	chr12:86610040-86798121	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1045386	chr12:86616015-86733418	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv541565	chr12:86616015-86733418	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2625711	chr12:86652211-86654211	Weak transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86644200-86655400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr12:86650200-86653600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:86650200-86655400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:86650200-86658200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:86650200-86658400	Weak transcription	Left Ventricle	heart
6	chr12:86651000-86655000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:86651400-86654000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr12:86651400-86655000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:86651400-86658200	Weak transcription	Brain Germinal Matrix	brain
10	chr12:86651600-86653800	Weak transcription	Fetal Heart	heart
11	chr12:86651600-86655200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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