Variant report

Variant	rs2130347
Chromosome Location	chr3:87861083-87861084
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:87859784..87864231-chr3:87868098..87870648,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1021845	1.00[ASN][1000 genomes]
rs1158019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1489775	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503431	1.00[ASN][1000 genomes]
rs1503435	1.00[ASN][1000 genomes]
rs1602153	1.00[ASN][1000 genomes]
rs1812620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1844433	1.00[ASN][1000 genomes]
rs1897237	1.00[ASN][1000 genomes]
rs1910400	1.00[ASN][1000 genomes]
rs2130349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28690491	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919237	1.00[ASN][1000 genomes]
rs2919239	1.00[ASN][1000 genomes]
rs2919245	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919246	1.00[ASN][1000 genomes]
rs2919247	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919250	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919256	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2919257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2919259	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932266	1.00[ASN][1000 genomes]
rs2932267	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2932269	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932271	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2932287	1.00[ASN][1000 genomes]
rs2932297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2932308	1.00[ASN][1000 genomes]
rs2938281	1.00[ASN][1000 genomes]
rs59395828	1.00[ASN][1000 genomes]
rs6774364	1.00[ASN][1000 genomes]
rs6777373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787171	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790616	1.00[ASN][1000 genomes]
rs6796732	1.00[ASN][1000 genomes]
rs6807498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72911631	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641305	1.00[ASN][1000 genomes]
rs9816019	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854145	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87859400-87861200	ZNF genes & repeats	K562	blood
2	chr3:87860600-87863400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr3:87860600-87863800	Weak transcription	HUVEC	blood vessel
4	chr3:87860800-87862200	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr3:87860800-87862400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:87860800-87863200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr3:87861000-87862200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:87861000-87862800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links