Variant report

Variant	rs28501554
Chromosome Location	chr8:42622160-42622161
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	chr8:42614471..42617049-chr8:42620797..42622845,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10087172	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10092346	0.91[AMR][1000 genomes]
rs10107450	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10108797	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10109040	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10109429	0.99[ASN][1000 genomes]
rs10109864	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10110332	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1072003	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808962	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11986893	0.82[AMR][1000 genomes]
rs11995030	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16891561	0.82[ASN][1000 genomes]
rs1960346	0.81[AMR][1000 genomes]
rs2082591	0.84[AMR][1000 genomes]
rs2117225	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2196128	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217732	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2304297	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28784665	0.84[AMR][1000 genomes]
rs28826992	0.84[AMR][1000 genomes]
rs4236926	0.82[ASN][1000 genomes]
rs4509313	0.85[AMR][1000 genomes]
rs4567031	0.85[AMR][1000 genomes]
rs4737068	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4737071	0.82[AMR][1000 genomes]
rs55828312	0.82[ASN][1000 genomes]
rs56395510	0.84[AMR][1000 genomes]
rs57645595	0.81[ASN][1000 genomes]
rs6474418	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6474420	0.85[AMR][1000 genomes]
rs6982753	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6984252	0.85[AMR][1000 genomes]
rs6999449	0.92[AMR][1000 genomes]
rs7000412	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7001753	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7002223	0.97[ASN][1000 genomes]
rs7004108	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7015935	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017612	0.96[ASN][1000 genomes]
rs7459838	0.82[ASN][1000 genomes]
rs7812298	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824155	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7824614	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7825261	0.92[AMR][1000 genomes]
rs7825907	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7828366	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7831096	0.84[AMR][1000 genomes]
rs7839964	0.94[ASN][1000 genomes]
rs7841834	0.82[AMR][1000 genomes]
rs7845663	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs892413	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9298628	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9298629	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530880	chr8:41895241-42755506	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1034724	chr8:42386707-42772203	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv428516	chr8:42577171-42731235	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42608800-42629200	Weak transcription	Right Atrium	heart
2	chr8:42616200-42623400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:42617200-42622400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:42619400-42623200	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr8:42619400-42623400	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr8:42620000-42623600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:42620400-42623600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:42620600-42623400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:42620600-42623600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:42620800-42622600	Weak transcription	Dnd41	blood
11	chr8:42620800-42623200	Weak transcription	Fetal Thymus	thymus
12	chr8:42620800-42623400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:42620800-42623400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:42620800-42623600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:42621600-42622400	Enhancers	GM12878-XiMat	blood
16	chr8:42621800-42622200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:42621800-42623200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr8:42621800-42624400	Enhancers	Primary B cells from cord blood	blood
19	chr8:42621800-42624800	Enhancers	Primary B cells from peripheral blood	blood
20	chr8:42622000-42623200	Enhancers	Primary T helper cells PMA-I stimulated	--

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