Variant report

Variant	rs73271569
Chromosome Location	chr7:13888686-13888687
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56972427	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57004017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60576246	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73271579	1.00[AMR][1000 genomes]
rs73679199	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73679202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019873	chr7:13707148-14133367	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv433032	chr7:13792450-13911001	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020310	chr7:13839681-14015794	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538738	chr7:13839681-14015794	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv887697	chr7:13841798-13899446	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv887698	chr7:13841798-14056075	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1020543	chr7:13851470-14021121	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv887699	chr7:13868601-13899446	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1015919	chr7:13873800-13908250	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv516692	chr7:13875122-13907827	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13881000-13889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:13885000-13889800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:13885800-13888800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:13886200-13890200	Enhancers	Fetal Lung	lung
5	chr7:13886200-13892200	Enhancers	NHDF-Ad	bronchial
6	chr7:13886400-13888800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:13886800-13889000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr7:13887000-13892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:13888000-13890000	Enhancers	Osteobl	bone
10	chr7:13888200-13890600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:13888200-13892000	Enhancers	NHEK	skin
12	chr7:13888200-13892200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:13888400-13892200	Enhancers	NHLF	lung
14	chr7:13888600-13889200	Enhancers	Right Atrium	heart
15	chr7:13888600-13889400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr7:13888600-13891000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:13888600-13891400	Weak transcription	Fetal Stomach	stomach
18	chr7:13888600-13892600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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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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