Variant report

Variant	rs74110939
Chromosome Location	chr12:75841058-75841059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56242432	1.00[AMR][1000 genomes]
rs57417036	0.98[AFR][1000 genomes];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]
rs74108714	1.00[AMR][1000 genomes]
rs74108721	1.00[AMR][1000 genomes]
rs74108729	1.00[AMR][1000 genomes]
rs74108751	1.00[AMR][1000 genomes]
rs74108752	1.00[AMR][1000 genomes]
rs74108753	1.00[AMR][1000 genomes]
rs74108755	1.00[AMR][1000 genomes]
rs74108756	1.00[AMR][1000 genomes]
rs74108760	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108761	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108762	1.00[AMR][1000 genomes]
rs74108767	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108768	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108773	1.00[AMR][1000 genomes]
rs74108775	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108779	1.00[AMR][1000 genomes]
rs74108787	1.00[AMR][1000 genomes]
rs74108788	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108791	0.92[AFR][1000 genomes];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	1.00[AMR][1000 genomes]
rs74109746	1.00[AMR][1000 genomes]
rs74109747	1.00[AMR][1000 genomes]
rs74109748	1.00[AMR][1000 genomes]
rs74109749	1.00[AMR][1000 genomes]
rs74109754	1.00[AMR][1000 genomes]
rs74109755	1.00[AMR][1000 genomes]
rs74109756	1.00[AMR][1000 genomes]
rs74109757	1.00[AMR][1000 genomes]
rs74109762	1.00[AMR][1000 genomes]
rs74109764	1.00[AMR][1000 genomes]
rs74109768	1.00[AMR][1000 genomes]
rs74109770	1.00[AMR][1000 genomes]
rs74109771	1.00[AMR][1000 genomes]
rs74109772	1.00[AMR][1000 genomes]
rs74109773	1.00[AMR][1000 genomes]
rs74109774	1.00[AMR][1000 genomes]
rs74109776	1.00[AMR][1000 genomes]
rs74109780	1.00[AMR][1000 genomes]
rs74109781	1.00[AMR][1000 genomes]
rs74109782	1.00[AMR][1000 genomes]
rs74109785	1.00[AMR][1000 genomes]
rs74109786	1.00[AMR][1000 genomes]
rs74109787	1.00[AMR][1000 genomes]
rs74109789	1.00[AMR][1000 genomes]
rs74109790	1.00[AMR][1000 genomes]
rs74110940	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74110945	1.00[AFR][1000 genomes];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	1.00[AMR][1000 genomes]
rs74112440	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:6 , 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	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75837200-75842800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr12:75837400-75842000	Enhancers	NH-A	brain
3	chr12:75838600-75842600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:75838800-75846400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:75838800-75846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:75839400-75842600	Enhancers	Osteobl	bone
7	chr12:75839600-75842800	Enhancers	NHDF-Ad	bronchial
8	chr12:75839800-75842200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:75839800-75842800	Enhancers	NHEK	skin
10	chr12:75839800-75843000	Enhancers	HMEC	breast
11	chr12:75839800-75847800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:75840000-75842000	Enhancers	NHLF	lung
13	chr12:75840000-75842600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:75840000-75846400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:75840200-75841800	Enhancers	HSMMtube	muscle
16	chr12:75840200-75842400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:75840200-75843000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:75840400-75841400	Enhancers	HUVEC	blood vessel
19	chr12:75840400-75841600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:75840400-75842000	Enhancers	HSMM	muscle
21	chr12:75840400-75842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr12:75840400-75846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:75840600-75842600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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