Variant report

Variant	rs73085408
Chromosome Location	chr1:215730969-215730970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs57056866	1.00[AFR][1000 genomes]
rs57602690	0.89[AFR][1000 genomes]
rs58582683	0.89[AFR][1000 genomes]
rs73085405	1.00[AFR][1000 genomes]
rs9659097	1.00[AFR][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	esv1796390	chr1:215561548-215799074	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3411228	chr1:215704606-215742745	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv945291	chr1:215717059-215737649	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3334079	chr1:215717606-215745691	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215729600-215731200	ZNF genes & repeats	Fetal Intestine Small	intestine
2	chr1:215730000-215732000	Enhancers	Fetal Intestine Large	intestine
3	chr1:215730000-215732000	Enhancers	Stomach Mucosa	stomach
4	chr1:215730200-215731000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:215730400-215731000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:215730400-215732200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:215730600-215732000	Flanking Active TSS	HepG2	liver
8	chr1:215730600-215732200	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:215730800-215731800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:215730800-215732000	Enhancers	Liver	Liver
11	chr1:215730800-215740200	Weak transcription	Pancreas	Pancrea

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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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