Variant report

Variant	rs74109746
Chromosome Location	chr12:75997892-75997893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:75992922..75995873-chr12:75997451..75999755,2	K562	blood:

Variant related genes	Relation type
ENSG00000257777	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11366	1.00[AMR][1000 genomes]
rs55838537	1.00[AMR][1000 genomes]
rs55862053	1.00[AMR][1000 genomes]
rs55938346	1.00[AMR][1000 genomes]
rs56198554	1.00[AMR][1000 genomes]
rs57417036	1.00[AMR][1000 genomes]
rs57936468	1.00[AMR][1000 genomes]
rs60941260	1.00[AMR][1000 genomes]
rs61087380	1.00[AMR][1000 genomes]
rs7313298	1.00[AMR][1000 genomes]
rs74108762	1.00[AMR][1000 genomes]
rs74108767	1.00[AMR][1000 genomes]
rs74108768	1.00[AMR][1000 genomes]
rs74108773	1.00[AMR][1000 genomes]
rs74108775	1.00[AMR][1000 genomes]
rs74108779	1.00[AMR][1000 genomes]
rs74108787	1.00[AMR][1000 genomes]
rs74108788	1.00[AMR][1000 genomes]
rs74108791	1.00[AMR][1000 genomes]
rs74108803	1.00[AMR][1000 genomes]
rs74108812	1.00[AMR][1000 genomes]
rs74108816	1.00[AMR][1000 genomes]
rs74108826	1.00[AMR][1000 genomes]
rs74108833	1.00[AMR][1000 genomes]
rs74108834	1.00[AMR][1000 genomes]
rs74108836	1.00[AMR][1000 genomes]
rs74108840	1.00[AMR][1000 genomes]
rs74108903	1.00[AMR][1000 genomes]
rs74109586	1.00[AMR][1000 genomes]
rs74109587	1.00[AMR][1000 genomes]
rs74109588	1.00[AMR][1000 genomes]
rs74109589	1.00[AMR][1000 genomes]
rs74109591	1.00[AMR][1000 genomes]
rs74109592	1.00[AMR][1000 genomes]
rs74109593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109749	1.00[AMR][1000 genomes]
rs74109754	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109755	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109757	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109762	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109764	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109768	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109770	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109771	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109772	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109773	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109774	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109776	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109780	1.00[AMR][1000 genomes]
rs74109781	1.00[AMR][1000 genomes]
rs74109782	1.00[AMR][1000 genomes]
rs74109785	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109786	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109787	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74109790	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74110939	1.00[AMR][1000 genomes]
rs74110940	1.00[AMR][1000 genomes]
rs74110945	1.00[AMR][1000 genomes]
rs74110966	1.00[AMR][1000 genomes]
rs74110967	1.00[AMR][1000 genomes]
rs74111441	1.00[AMR][1000 genomes]
rs74111442	1.00[AMR][1000 genomes]
rs74112439	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112440	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112441	1.00[AMR][1000 genomes]
rs74112442	1.00[AMR][1000 genomes]
rs74112443	1.00[AMR][1000 genomes]
rs74112444	1.00[AMR][1000 genomes]
rs74112446	1.00[AMR][1000 genomes]
rs7954292	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75980000-76017000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:75991800-76004800	Weak transcription	Aorta	Aorta
3	chr12:75993000-75999600	Weak transcription	Brain Germinal Matrix	brain
4	chr12:75997400-75998200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:75997400-75998400	Enhancers	HSMM	muscle
6	chr12:75997800-76000000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:75997800-76000000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:75997800-76000000	Weak transcription	NHDF-Ad	bronchial

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