Variant report

Variant	rs7528984
Chromosome Location	chr1:103646849-103646850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10747438	1.00[AMR][1000 genomes]
rs10747440	1.00[AMR][1000 genomes]
rs10782926	1.00[AMR][1000 genomes]
rs10782930	1.00[AMR][1000 genomes]
rs10874692	1.00[AMR][1000 genomes]
rs10874702	1.00[AMR][1000 genomes]
rs11164707	1.00[AMR][1000 genomes]
rs12748007	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1406125	1.00[AMR][1000 genomes]
rs1406128	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1528199	1.00[AMR][1000 genomes]
rs1538038	1.00[AMR][1000 genomes]
rs1819048	1.00[AMR][1000 genomes]
rs1830302	1.00[AMR][1000 genomes]
rs1830303	1.00[AMR][1000 genomes]
rs1852656	0.81[AFR][1000 genomes]
rs1881274	1.00[AMR][1000 genomes]
rs1881277	1.00[AMR][1000 genomes]
rs1881278	1.00[AMR][1000 genomes]
rs1918887	1.00[AMR][1000 genomes]
rs1950016	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2091510	1.00[AMR][1000 genomes]
rs2178164	1.00[AMR][1000 genomes]
rs2376283	1.00[AMR][1000 genomes]
rs2376354	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2376355	1.00[AMR][1000 genomes]
rs3915488	1.00[AMR][1000 genomes]
rs4013848	1.00[AMR][1000 genomes]
rs4274085	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4372280	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4622083	1.00[AMR][1000 genomes]
rs4907989	1.00[AMR][1000 genomes]
rs4907991	1.00[AMR][1000 genomes]
rs6660456	1.00[AMR][1000 genomes]
rs6667590	1.00[AMR][1000 genomes]
rs6670867	1.00[AMR][1000 genomes]
rs6699464	0.86[AFR][1000 genomes]
rs7514256	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7533628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553046	1.00[AMR][1000 genomes]
rs9782912	1.00[AMR][1000 genomes]
rs9783093	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2830089	chr1:103615938-103670474	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv526337	chr1:103636607-103704266	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
6	nsv947540	chr1:103643208-103649306	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv159319	chr1:103645616-103655285	Enhancers Weak transcription Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103646000-103647200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:103646000-103647200	Enhancers	HSMM	muscle
3	chr1:103646000-103647200	Enhancers	NH-A	brain
4	chr1:103646000-103647400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:103646000-103647400	Enhancers	Fetal Heart	heart
6	chr1:103646800-103647200	Enhancers	A549	lung

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