Variant report

Variant	rs1346344
Chromosome Location	chr2:145368383-145368384
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145365652..145369289-chr2:145381378..145385045,3	K562	blood:
2	chr2:145360436..145364930-chr2:145366386..145368728,4	K562	blood:
3	chr2:145273305..145275815-chr2:145366066..145368702,2	K562	blood:
4	chr2:145276561..145278428-chr2:145367076..145369134,2	K562	blood:

Variant related genes	Relation type
ENSG00000169554	Chromatin interaction
ENSG00000238057	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10187896	0.94[ASN][1000 genomes]
rs10201960	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1035837	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10496965	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10803510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10928227	0.83[JPT][hapmap]
rs11675927	1.00[YRI][hapmap]
rs11689322	1.00[YRI][hapmap]
rs11883829	0.83[JPT][hapmap]
rs11902294	0.82[JPT][hapmap]
rs12691695	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12691696	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13015001	0.83[JPT][hapmap]
rs13020210	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1346343	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1427499	0.95[ASN][1000 genomes]
rs1427500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1427506	1.00[CHB][hapmap];0.93[JPT][hapmap];0.95[ASN][1000 genomes]
rs1427507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1427508	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1427509	0.85[JPT][hapmap]
rs1483491	0.83[JPT][hapmap]
rs1559964	0.83[ASN][1000 genomes]
rs1564697	0.83[JPT][hapmap]
rs16823886	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs17690892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17741930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1834787	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2162571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2381649	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2381651	0.85[JPT][hapmap]
rs4143008	0.90[CHB][hapmap]
rs4143011	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4662232	0.83[JPT][hapmap]
rs4662385	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4662386	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4662388	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6727224	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6731249	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7565134	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs767381	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs900554	0.83[JPT][hapmap]
rs980772	0.85[JPT][hapmap]
rs990847	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv531662	chr2:145219415-145422833	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145362000-145369200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr2:145366200-145368400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr2:145366400-145373200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:145367600-145368600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:145368200-145369200	Enhancers	Monocytes-CD14+_RO01746	blood

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