Variant report

Variant	rs7543504
Chromosome Location	chr1:119161958-119161959
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57286151	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58060170	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58275617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58914587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58936827	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61064384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005255	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005256	1.00[AMR][1000 genomes]
rs73005263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016762	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73016774	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73020856	1.00[AMR][1000 genomes]
rs74114507	1.00[AMR][1000 genomes]
rs74116009	0.82[AFR][1000 genomes];1.00[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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:119160600-119163000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:119160800-119162200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:119161200-119162000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr1:119161400-119162000	Enhancers	Fetal Heart	heart
5	chr1:119161600-119162000	Enhancers	Fetal Muscle Leg	muscle
6	chr1:119161800-119162200	Enhancers	Psoas Muscle	Psoas
7	chr1:119161800-119162400	Weak transcription	H1 BMP4 Derived Trophoblast 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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