Variant report

Variant	rs2130354
Chromosome Location	chr3:87885882-87885883
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1021339	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1354324	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1354326	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1393921	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1503429	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1503434	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17025064	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17025121	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1813449	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1875715	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1946570	0.81[ASN][1000 genomes]
rs2062812	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2130353	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28513441	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2919246	0.80[AFR][1000 genomes]
rs2919282	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932284	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932305	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932308	0.80[AFR][1000 genomes]
rs2938261	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2938264	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2938271	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2938272	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2938276	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2938279	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34979865	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6764864	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7646993	0.93[CHB][hapmap]
rs923478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs994130	0.86[EUR][1000 genomes];0.96[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	nsv590918	chr3:87323334-87910931	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv834756	chr3:87763793-87938179	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1009981	chr3:87821573-88003956	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv536634	chr3:87821573-88003956	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv460757	chr3:87863280-87949733	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv590919	chr3:87863280-87949733	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv834758	chr3:87867363-88014975	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87867800-87912800	Weak transcription	K562	blood
2	chr3:87881200-87887400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:87882200-87907600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr3:87884400-87886800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:87885000-87886400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr3:87885000-87886800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:87885400-87886800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr3:87885400-87888400	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links