Variant report

Variant	rs28672708
Chromosome Location	chr4:110845886-110845887
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110838362..110841252-chr4:110845200..110847898,2	K562	blood:
2	chr4:110838362..110842367-chr4:110842541..110847898,5	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10002971	0.86[EUR][1000 genomes]
rs10011112	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10014383	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10017261	0.91[EUR][1000 genomes]
rs10023272	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10029105	0.96[EUR][1000 genomes]
rs10029654	0.96[EUR][1000 genomes]
rs10213531	0.95[EUR][1000 genomes]
rs1024600	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10470911	0.97[EUR][1000 genomes]
rs10488881	0.96[EUR][1000 genomes]
rs11098056	0.92[EUR][1000 genomes]
rs11568903	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568905	0.81[EUR][1000 genomes]
rs11568950	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11568972	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11568994	0.85[EUR][1000 genomes]
rs17238095	1.00[ASN][1000 genomes]
rs17253063	0.86[EUR][1000 genomes]
rs17316633	1.00[ASN][1000 genomes]
rs2024114	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2067004	0.95[EUR][1000 genomes]
rs2190909	0.94[EUR][1000 genomes]
rs2237041	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237045	0.95[EUR][1000 genomes]
rs2250616	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282785	0.96[EUR][1000 genomes]
rs2298977	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2347136	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28437404	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28535066	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28540029	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28564978	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28629923	0.96[EUR][1000 genomes]
rs28734982	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764861	0.96[EUR][1000 genomes]
rs3775967	0.98[EUR][1000 genomes]
rs3796945	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3796946	0.96[EUR][1000 genomes]
rs3822288	0.96[EUR][1000 genomes]
rs4279279	0.94[EUR][1000 genomes]
rs4698755	0.96[EUR][1000 genomes]
rs4698756	0.96[EUR][1000 genomes]
rs4698800	0.96[EUR][1000 genomes]
rs4698801	0.96[EUR][1000 genomes]
rs62327602	1.00[ASN][1000 genomes]
rs62327604	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6533481	0.96[EUR][1000 genomes]
rs6837717	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7655579	0.96[EUR][1000 genomes]
rs7668520	0.96[EUR][1000 genomes]
rs7680062	0.81[EUR][1000 genomes]
rs881878	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307347	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9992755	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv1805263	chr4:110840722-110848490	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1804723	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1804837	chr4:110840748-110846796	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1808922	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1813652	chr4:110840748-110846796	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1813951	chr4:110840748-110862637	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 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	chr4:110836800-110849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:110837800-110846000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:110840600-110849200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:110842800-110849200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr4:110843000-110876200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:110843200-110849200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr4:110843200-110851000	Weak transcription	Pancreas	Pancrea
8	chr4:110844000-110849400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:110844000-110850400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr4:110845600-110846400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr4:110845600-110846600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:110845800-110846200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:110845800-110846200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:110845800-110847000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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