Variant report

Variant	rs6952457
Chromosome Location	chr7:127918338-127918339
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10233310	0.83[EUR][1000 genomes]
rs10245775	0.91[EUR][1000 genomes]
rs10251133	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1026189	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972879	0.91[EUR][1000 genomes]
rs1466145	1.00[EUR][1000 genomes]
rs16871983	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151951	1.00[EUR][1000 genomes]
rs17151956	0.90[EUR][1000 genomes]
rs17151961	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151967	1.00[EUR][1000 genomes]
rs17151977	0.81[EUR][1000 genomes]
rs2122628	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402886	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437662	0.81[EUR][1000 genomes]
rs41281734	0.81[EUR][1000 genomes]
rs4731439	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57006226	0.90[EUR][1000 genomes]
rs57272364	0.90[EUR][1000 genomes]
rs57403126	1.00[EUR][1000 genomes]
rs59168227	0.81[EUR][1000 genomes]
rs60525457	0.81[EUR][1000 genomes]
rs61733108	0.81[EUR][1000 genomes]
rs6943621	0.91[EUR][1000 genomes]
rs7778230	1.00[EUR][1000 genomes]
rs7778254	0.90[EUR][1000 genomes]
rs921399	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127908400-127921800	Weak transcription	HSMM	muscle
2	chr7:127912200-127921600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr7:127912200-127925200	Weak transcription	Ovary	ovary
4	chr7:127912400-127921400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:127912400-127921600	Weak transcription	Brain Angular Gyrus	brain
6	chr7:127915400-127920400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:127915600-127920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:127916400-127920200	Weak transcription	Right Atrium	heart
9	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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