Variant report

Variant	rs62458370
Chromosome Location	chr7:64294984-64294985
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10215071	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236928	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243893	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11974747	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13224405	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227838	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247620	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13247815	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1815164	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28841902	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829004	0.94[ASN][1000 genomes]
rs4613867	0.83[AMR][1000 genomes]
rs58301601	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58685854	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62455060	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62455112	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455114	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62455115	0.94[ASN][1000 genomes]
rs62455116	0.94[ASN][1000 genomes]
rs62455117	0.94[ASN][1000 genomes]
rs62455120	0.94[ASN][1000 genomes]
rs62455122	0.94[ASN][1000 genomes]
rs62455123	0.94[ASN][1000 genomes]
rs62455575	0.94[ASN][1000 genomes]
rs62455577	0.92[ASN][1000 genomes]
rs62455579	0.86[ASN][1000 genomes]
rs62455580	0.94[ASN][1000 genomes]
rs62455581	0.94[ASN][1000 genomes]
rs62455582	0.94[ASN][1000 genomes]
rs62455583	0.88[ASN][1000 genomes]
rs62455586	0.89[ASN][1000 genomes]
rs62456797	0.83[AFR][1000 genomes]
rs62456798	0.83[AFR][1000 genomes]
rs62456800	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62456816	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62456823	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456824	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62456827	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456837	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456838	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62456841	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62456842	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62456843	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62456844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458369	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458371	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62458373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62458374	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458375	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458427	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62458428	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460186	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460207	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7797427	0.94[ASN][1000 genomes]
rs7809677	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv2755057	chr7:63819849-64345822	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
4	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv888271	chr7:63961212-64295884	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
7	nsv888274	chr7:63990100-64331123	Strong transcription ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
8	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv888279	chr7:64094285-64331123	Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
11	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
12	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv888281	chr7:64250409-64295884	Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64261000-64295400	Weak transcription	Osteobl	bone
2	chr7:64268600-64296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:64272800-64295200	Weak transcription	Fetal Thymus	thymus
4	chr7:64273400-64301400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:64284600-64295800	Weak transcription	Brain Germinal Matrix	brain
6	chr7:64284800-64299800	Weak transcription	Pancreas	Pancrea
7	chr7:64285400-64296400	Weak transcription	Left Ventricle	heart
8	chr7:64291600-64296000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:64292600-64295200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:64293000-64295600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:64293000-64295600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr7:64293000-64296600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:64293000-64301000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr7:64293200-64295000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:64293200-64295200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:64293200-64295200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:64293200-64295400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:64293400-64295200	Weak transcription	Adipose Nuclei	Adipose
19	chr7:64293400-64295600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr7:64293600-64295600	Weak transcription	HSMM	muscle

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