Variant report

Variant	rs2393251
Chromosome Location	chr12:118100932-118100933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118096493..118098398-chr12:118099429..118101642,2	MCF-7	breast:
2	chr12:118094873..118097997-chr12:118099914..118101692,3	K562	blood:
3	chr12:118099770..118101972-chr12:118106022..118108315,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10444499	0.85[EUR][1000 genomes]
rs10735108	0.83[EUR][1000 genomes]
rs10735110	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10735111	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068589	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1400593	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517196	0.85[EUR][1000 genomes]
rs1517201	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1517204	0.85[EUR][1000 genomes]
rs1568154	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1568160	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1568161	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1850403	0.85[EUR][1000 genomes]
rs1976755	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2090440	0.81[EUR][1000 genomes]
rs2138698	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2393250	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2650169	0.90[CEU][hapmap]
rs4570668	0.84[EUR][1000 genomes]
rs4767580	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4767581	0.84[EUR][1000 genomes]
rs4767583	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6490137	0.85[EUR][1000 genomes]
rs6490139	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6490142	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7298395	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305557	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7957425	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7980301	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv3365070	chr12:118100498-118102426	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2393251	NIP30	trans	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118090000-118109800	Weak transcription	Pancreas	Pancrea
2	chr12:118098600-118101200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:118098600-118101800	Enhancers	HUVEC	blood vessel
4	chr12:118099400-118101200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:118099800-118101000	Enhancers	NHDF-Ad	bronchial
6	chr12:118099800-118102000	Weak transcription	Adipose Nuclei	Adipose
7	chr12:118100000-118101200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:118100200-118101000	Enhancers	A549	lung
9	chr12:118100200-118101200	Enhancers	NHEK	skin
10	chr12:118100600-118101000	Enhancers	Primary monocytes fromperipheralblood	blood

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