Variant report

Variant	rs60630082
Chromosome Location	chr7:124418927-124418928
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58302116	0.82[AMR][1000 genomes]
rs59572327	0.82[AMR][1000 genomes]
rs59653477	0.82[AMR][1000 genomes]
rs60347835	0.82[AMR][1000 genomes]
rs66506561	0.82[AMR][1000 genomes]
rs66528014	0.82[AMR][1000 genomes]
rs66610287	0.82[AMR][1000 genomes]
rs73223509	0.82[AMR][1000 genomes]
rs73223530	0.82[AMR][1000 genomes]
rs73443849	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73443852	0.82[AMR][1000 genomes]
rs7801681	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124411000-124419400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:124417200-124421800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:124417600-124421800	Weak transcription	HepG2	liver
4	chr7:124417800-124421800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:124418200-124419400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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