Variant report

Variant	rs1424538
Chromosome Location	chr2:186301351-186301352
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10186680	1.00[EUR][1000 genomes]
rs10195783	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803986	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10803987	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10931177	0.82[ASN][1000 genomes]
rs10931179	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1116602	1.00[EUR][1000 genomes]
rs11673741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887570	1.00[EUR][1000 genomes]
rs11900568	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12620350	1.00[EUR][1000 genomes]
rs12693410	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12693412	1.00[EUR][1000 genomes]
rs13002717	1.00[EUR][1000 genomes]
rs13015569	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1345933	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364481	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1424525	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1424526	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1424527	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1477455	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1477457	0.97[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194508	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2370391	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336042	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4265972	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4499391	1.00[EUR][1000 genomes]
rs4575687	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434130	0.97[ASN][1000 genomes]
rs6706525	1.00[EUR][1000 genomes]
rs6713566	1.00[EUR][1000 genomes]
rs6752582	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6761586	1.00[EUR][1000 genomes]
rs7567961	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7576818	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7602278	1.00[EUR][1000 genomes]
rs763329	1.00[EUR][1000 genomes]
rs991327	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584009	chr2:186203397-186345148	Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv459982	chr2:186213755-186475590	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv584012	chr2:186213755-186475590	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875525	chr2:186223503-186434458	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv470502	chr2:186245653-186309738	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv459983	chr2:186245653-186377253	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv584013	chr2:186245653-186377253	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875526	chr2:186272059-186434458	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv875527	chr2:186272059-186475590	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv459985	chr2:186293335-186422662	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv584014	chr2:186293335-186422662	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv459986	chr2:186297074-186413124	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv584015	chr2:186297074-186413124	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv584016	chr2:186301351-186410869	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv875528	chr2:186301351-186475590	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:186298200-186315800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:186298600-186315800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:186298800-186314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:186299200-186301400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:186300000-186301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:186300000-186302200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:186300400-186301400	Weak transcription	HMEC	breast
8	chr2:186300800-186303000	Enhancers	NHEK	skin

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