Variant report

Variant	rs28644245
Chromosome Location	chr8:58369079-58369080
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10097103	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10110310	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10957002	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11985440	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12678582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1580027	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1868843	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2122707	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2325744	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2325745	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28422045	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60141509	0.81[AFR][1000 genomes]
rs6471606	0.90[AFR][1000 genomes]
rs6471607	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471609	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986679	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6992163	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6993009	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6996741	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7003152	0.94[ASN][1000 genomes]
rs7003317	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7015254	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7829534	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7842687	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7843104	0.84[EUR][1000 genomes];0.93[ASN][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	esv2758161	chr8:57930392-58474449	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv2759618	chr8:57930392-58474449	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv533217	chr8:57991065-58789001	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv890936	chr8:58266339-58564501	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv524390	chr8:58305969-58572471	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv518178	chr8:58328635-58542880	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1029189	chr8:58336604-58409288	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv6208	chr8:58345211-58389888	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	lncRNA	n/a	inside rSNPs	diseases
9	nsv437623	chr8:58349767-58376503	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
10	esv2507333	chr8:58356665-58369375	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:58363200-58370000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:58366800-58370000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:58367800-58370200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:58368000-58369200	Enhancers	NHDF-Ad	bronchial
5	chr8:58368000-58369800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:58368000-58370200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:58368200-58370200	Enhancers	Colonic Mucosa	Colon
8	chr8:58368200-58371600	Enhancers	Stomach Mucosa	stomach
9	chr8:58368400-58369200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr8:58368600-58369600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
11	chr8:58368600-58369600	Weak transcription	HSMM	muscle
12	chr8:58368800-58369200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr8:58369000-58369200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr8:58369000-58369200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr8:58369000-58369400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:58369000-58370000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:58369000-58370200	Enhancers	Sigmoid Colon	Sigmoid Colon

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