Variant report

Variant	rs17574847
Chromosome Location	chr4:48250357-48250358
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48248411..48250691-chr4:48255149..48257827,3	K562	blood:
2	chr4:48248891..48252665-chr4:48270333..48273467,3	MCF-7	breast:
3	chr4:48247444..48251511-chr4:48269586..48272868,4	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10454242	1.00[JPT][hapmap]
rs12500187	0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes]
rs12504870	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103259	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13104355	0.97[EUR][1000 genomes]
rs13114469	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs13120599	0.97[EUR][1000 genomes]
rs13121247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125176	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1355218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471308	0.97[EUR][1000 genomes]
rs17471321	0.84[CEU][hapmap];0.97[EUR][1000 genomes]
rs17574806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2352597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664021	0.87[CEU][hapmap];0.97[EUR][1000 genomes]
rs2664030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704403	0.97[EUR][1000 genomes]
rs2704404	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2704412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34292660	0.97[EUR][1000 genomes]
rs34712902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35602964	0.84[AFR][1000 genomes]
rs35912788	0.97[EUR][1000 genomes]
rs35920857	0.97[EUR][1000 genomes]
rs36103122	0.97[EUR][1000 genomes]
rs4694891	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657817	0.97[EUR][1000 genomes]
rs60092950	0.95[EUR][1000 genomes]
rs6826144	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6850058	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs73246007	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73817608	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7658983	0.97[EUR][1000 genomes]
rs7659013	0.97[EUR][1000 genomes]
rs7663382	0.97[EUR][1000 genomes]
rs7669018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678247	0.96[EUR][1000 genomes]
rs7678843	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7698045	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9996158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48242600-48252600	Weak transcription	Aorta	Aorta
2	chr4:48248800-48255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:48249000-48250600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr4:48249000-48250600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:48249200-48250400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr4:48249200-48250400	Enhancers	Fetal Heart	heart
8	chr4:48249400-48250600	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:48249400-48251000	Flanking Active TSS	GM12878-XiMat	blood
10	chr4:48249600-48251000	Enhancers	Liver	Liver
11	chr4:48249600-48251000	Enhancers	K562	blood
12	chr4:48249600-48252600	Weak transcription	Primary B cells from cord blood	blood
13	chr4:48249600-48261600	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr4:48249800-48250400	Weak transcription	Fetal Intestine Large	intestine
15	chr4:48249800-48254200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:48249800-48255800	Weak transcription	NHDF-Ad	bronchial
17	chr4:48250000-48250600	Enhancers	Small Intestine	intestine
18	chr4:48250000-48252600	Enhancers	Fetal Lung	lung
19	chr4:48250200-48250400	Enhancers	Primary B cells from peripheral blood	blood
20	chr4:48250200-48250600	Enhancers	Left Ventricle	heart
21	chr4:48250200-48254600	Weak transcription	Monocytes-CD14+_RO01746	blood

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