Variant report

Variant	rs73678268
Chromosome Location	chr8:49237284-49237285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16935762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16935785	1.00[AMR][1000 genomes]
rs16937140	1.00[AMR][1000 genomes]
rs34485305	1.00[AFR][1000 genomes]
rs55664150	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55770570	1.00[AFR][1000 genomes]
rs56172225	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58676807	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678262	1.00[AMR][1000 genomes]
rs73678265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678267	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73678272	0.87[AFR][1000 genomes]
rs73678273	0.87[AFR][1000 genomes]
rs73678276	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7819699	1.00[AMR][1000 genomes]
rs7828670	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7832673	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831310	chr8:49080177-49256440	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831311	chr8:49106160-49290209	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1018242	chr8:49190915-49243694	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539600	chr8:49190915-49243694	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49232800-49237800	Weak transcription	Fetal Intestine Small	intestine
2	chr8:49233400-49239600	Weak transcription	Fetal Stomach	stomach
3	chr8:49235000-49237600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:49235000-49237600	Enhancers	HMEC	breast
5	chr8:49235800-49237600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:49235800-49237600	Enhancers	NHEK	skin
7	chr8:49236200-49237400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr8:49236200-49237600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:49236200-49237600	Enhancers	Osteobl	bone
10	chr8:49236400-49237600	Enhancers	NHDF-Ad	bronchial
11	chr8:49236600-49237600	Enhancers	HSMM	muscle
12	chr8:49236600-49238200	Enhancers	Fetal Heart	heart

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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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