Variant report

Variant	rs73330180
Chromosome Location	chr8:125101502-125101503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10087218	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10096401	1.00[AMR][1000 genomes]
rs10106517	1.00[AMR][1000 genomes]
rs10107906	1.00[AMR][1000 genomes]
rs10108094	1.00[AMR][1000 genomes]
rs10111932	1.00[AMR][1000 genomes]
rs28413919	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28630423	1.00[AMR][1000 genomes]
rs28665503	1.00[AMR][1000 genomes]
rs28733843	0.88[ASN][1000 genomes]
rs28758377	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56810274	1.00[AMR][1000 genomes]
rs56813553	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs57265559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57874567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58562578	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59645347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60486597	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60939722	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6995628	1.00[AMR][1000 genomes]
rs73328367	0.88[ASN][1000 genomes]
rs73328371	0.88[ASN][1000 genomes]
rs73328390	0.94[ASN][1000 genomes]
rs73328395	0.94[ASN][1000 genomes]
rs73328397	0.94[ASN][1000 genomes]
rs73330111	1.00[ASN][1000 genomes]
rs73330116	1.00[ASN][1000 genomes]
rs73330120	1.00[ASN][1000 genomes]
rs73330123	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330135	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330139	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330143	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs73330144	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330146	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330149	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330154	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330160	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330174	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330176	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73330182	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73332219	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73703917	1.00[AMR][1000 genomes]
rs73703924	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73703927	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73703947	1.00[AMR][1000 genomes]
rs73703948	1.00[ASN][1000 genomes]
rs73703950	1.00[AMR][1000 genomes]
rs73703951	1.00[AMR][1000 genomes]
rs73703952	1.00[AMR][1000 genomes]
rs73703953	1.00[AMR][1000 genomes]
rs73703958	1.00[AMR][1000 genomes]
rs7817061	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7817244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7835106	1.00[AMR][1000 genomes]
rs7839666	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	nsv612144	chr8:125057728-125206503	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1023183	chr8:125060532-125206445	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv948556	chr8:125067187-125204721	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv1823135	chr8:125095089-125104587	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv831452	chr8:125099708-125259926	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
2	chr8:125095400-125107000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:125100200-125101600	Enhancers	Fetal Muscle Trunk	muscle
4	chr8:125100200-125102000	Enhancers	Fetal Muscle Leg	muscle
5	chr8:125100200-125102000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr8:125100600-125101600	Enhancers	Psoas Muscle	Psoas
7	chr8:125100600-125101800	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr8:125100800-125124600	Weak transcription	Gastric	stomach
9	chr8:125101000-125101600	Strong transcription	Stomach Mucosa	stomach
10	chr8:125101400-125101600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:125101400-125101600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:125101400-125101600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:125101400-125101800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:125101400-125102800	Enhancers	HUES6 Cell Line	embryonic stem cell

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