Variant report

Variant	rs10774940
Chromosome Location	chr12:118037227-118037228
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118030374..118032169-chr12:118035759..118037750,2	K562	blood:
2	chr12:118036749..118039602-chr12:118044303..118047236,2	MCF-7	breast:
3	chr12:118034118..118036338-chr12:118037028..118039912,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10444499	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735108	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068589	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12826831	0.83[ASN][1000 genomes]
rs1400589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1400593	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517196	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517201	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1517204	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568154	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1850403	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976755	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2650169	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4570668	0.85[EUR][1000 genomes]
rs4767580	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4767581	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767583	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490137	0.86[EUR][1000 genomes]
rs6490139	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs708861	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7305557	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7956575	0.90[EUR][1000 genomes]
rs7957425	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980301	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs816195	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs860113	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10774940	NIP30	trans	lymphoblastoid	RTeQTL

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118031600-118041000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:118031600-118041400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:118032800-118037800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:118035000-118041200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:118036800-118037600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr12:118037000-118037800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:118037000-118037800	Enhancers	Gastric	stomach
8	chr12:118037000-118038600	Enhancers	Pancreas	Pancrea
9	chr12:118037200-118038400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:118037200-118041200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:118037200-118044600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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