Variant report

Variant	rs28413919
Chromosome Location	chr8:125120166-125120167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:125118890..125120485-chr8:125122820..125124432,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10087218	1.00[ASN][1000 genomes]
rs10090974	0.83[AMR][1000 genomes]
rs10105799	1.00[AMR][1000 genomes]
rs10107268	1.00[AMR][1000 genomes]
rs28521184	1.00[AMR][1000 genomes]
rs28610529	0.83[AMR][1000 genomes]
rs28616090	0.83[AMR][1000 genomes]
rs28625683	0.83[AMR][1000 genomes]
rs28733843	0.88[ASN][1000 genomes]
rs28758377	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56813553	0.94[ASN][1000 genomes]
rs57265559	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs57874567	1.00[ASN][1000 genomes]
rs58562578	1.00[ASN][1000 genomes]
rs59645347	1.00[ASN][1000 genomes]
rs60486597	1.00[ASN][1000 genomes]
rs60939722	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61354499	0.83[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	1.00[ASN][1000 genomes]
rs73330135	1.00[ASN][1000 genomes]
rs73330139	1.00[ASN][1000 genomes]
rs73330143	0.89[ASN][1000 genomes]
rs73330144	1.00[ASN][1000 genomes]
rs73330146	1.00[ASN][1000 genomes]
rs73330149	1.00[ASN][1000 genomes]
rs73330154	1.00[ASN][1000 genomes]
rs73330160	1.00[ASN][1000 genomes]
rs73330174	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73330176	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73330180	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73330182	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73332219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73332237	0.83[AMR][1000 genomes]
rs73703924	1.00[ASN][1000 genomes]
rs73703927	1.00[ASN][1000 genomes]
rs73703948	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7817061	1.00[ASN][1000 genomes]
rs7817244	0.90[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	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	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125076800-125121800	Weak transcription	Fetal Stomach	stomach
2	chr8:125100800-125124600	Weak transcription	Gastric	stomach
3	chr8:125116200-125121400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:125117000-125120200	Weak transcription	HepG2	liver
5	chr8:125117600-125124200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:125117800-125121400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:125119400-125124600	Enhancers	Fetal Intestine Small	intestine
8	chr8:125119600-125129400	Enhancers	Fetal Heart	heart
9	chr8:125119800-125124800	Enhancers	Fetal Intestine Large	intestine
10	chr8:125120000-125120600	Weak transcription	Stomach Mucosa	stomach

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