Variant report

Variant	rs1430189
Chromosome Location	chr2:56031285-56031286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11125607	0.84[ASN][1000 genomes]
rs11125608	0.84[ASN][1000 genomes]
rs12478566	0.91[ASN][1000 genomes]
rs1344732	0.96[ASN][1000 genomes]
rs1346781	0.96[ASN][1000 genomes]
rs1346783	0.98[ASN][1000 genomes]
rs1346787	0.84[ASN][1000 genomes]
rs1346790	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367225	0.96[ASN][1000 genomes]
rs1367226	0.84[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1430190	0.96[ASN][1000 genomes]
rs1430191	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1430203	0.85[ASN][1000 genomes]
rs1897114	0.88[ASN][1000 genomes]
rs1960050	0.93[ASN][1000 genomes]
rs1985160	0.96[ASN][1000 genomes]
rs1985162	0.96[ASN][1000 genomes]
rs2052933	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115876	0.95[ASN][1000 genomes]
rs2115878	0.95[ASN][1000 genomes]
rs3791676	1.00[CHB][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs4352264	0.86[ASN][1000 genomes]
rs4672074	0.98[ASN][1000 genomes]
rs4672075	0.91[ASN][1000 genomes]
rs6545522	0.81[AMR][1000 genomes]
rs6545523	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6545526	0.91[ASN][1000 genomes]
rs6545527	0.84[ASN][1000 genomes]
rs6708796	0.95[ASN][1000 genomes]
rs6712017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714513	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733730	0.91[ASN][1000 genomes]
rs6743114	0.84[ASN][1000 genomes]
rs6749785	0.95[ASN][1000 genomes]
rs6751403	0.93[ASN][1000 genomes]
rs6753814	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs6757057	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]
rs72618677	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs732132	0.85[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs7572523	0.95[ASN][1000 genomes]
rs7574127	0.86[ASN][1000 genomes]
rs7607070	0.83[ASN][1000 genomes]
rs7609520	0.91[ASN][1000 genomes]
rs934278	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1430189	NENF	trans	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56029600-56037000	Weak transcription	Hela-S3	cervix
2	chr2:56029800-56032600	Weak transcription	Fetal Brain Female	brain
3	chr2:56030000-56031600	Weak transcription	Fetal Brain Male	brain
4	chr2:56030600-56034000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:56030800-56031800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:56030800-56031800	Enhancers	Brain Substantia Nigra	brain
7	chr2:56031000-56031800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:56031000-56032000	Enhancers	A549	lung
9	chr2:56031000-56033000	Enhancers	Adipose Nuclei	Adipose
10	chr2:56031200-56032200	Enhancers	Brain Hippocampus Middle	brain
11	chr2:56031200-56032400	Enhancers	Brain Germinal Matrix	brain
12	chr2:56031200-56033600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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