Variant report

Variant	rs74148658
Chromosome Location	chr1:225908440-225908441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16845217	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2085946	0.96[AFR][1000 genomes]
rs56309271	0.85[AMR][1000 genomes]
rs58832958	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6685617	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694179	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74147636	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74148660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 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	chr1:225889400-225909200	Weak transcription	Aorta	Aorta
2	chr1:225899400-225915000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:225907800-225908600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:225907800-225908600	Enhancers	Fetal Kidney	kidney
5	chr1:225907800-225908600	Enhancers	NHEK	skin
6	chr1:225907800-225908800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:225908000-225908600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr1:225908000-225909400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:225908400-225908800	Enhancers	Placenta	Placenta
10	chr1:225908400-225909200	Enhancers	Spleen	Spleen

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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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