Variant report

Variant	rs724050
Chromosome Location	chr7:83841443-83841444
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2040757	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2040758	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55702202	0.90[EUR][1000 genomes]
rs55810418	0.93[EUR][1000 genomes]
rs55980937	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56013706	0.93[EUR][1000 genomes]
rs56021068	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56178847	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56294026	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56345939	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56349344	0.93[EUR][1000 genomes]
rs56364289	0.93[EUR][1000 genomes]
rs56801502	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57237919	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58227364	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60821042	0.93[EUR][1000 genomes]
rs73181383	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73185105	0.93[EUR][1000 genomes]
rs73185126	0.92[EUR][1000 genomes]
rs73712711	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83838200-83846400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr7:83840000-83846200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:83841400-83841600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:83841400-83841600	Weak transcription	H9 Cell Line	embryonic stem cell

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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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