Variant report

Variant	rs10778325
Chromosome Location	chr12:104770362-104770363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11112018	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112021	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4272855	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4340125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340126	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4340127	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344569	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537826	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4539401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4569073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4638373	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539140	0.84[EUR][1000 genomes]
rs6539142	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6539144	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539145	0.85[ASW][hapmap]
rs7133103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7296888	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7296905	0.82[YRI][hapmap];0.86[AFR][1000 genomes]
rs7297993	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298186	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302144	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10778325	NUAK1	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104765600-104770600	Weak transcription	NHLF	lung
2	chr12:104765800-104770400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:104765800-104770400	Weak transcription	HSMM	muscle
4	chr12:104765800-104770400	Weak transcription	NHDF-Ad	bronchial
5	chr12:104765800-104770400	Weak transcription	Osteobl	bone
6	chr12:104765800-104770600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:104765800-104770600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:104765800-104770600	Weak transcription	HMEC	breast
9	chr12:104766000-104770400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:104766000-104778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:104766200-104770400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:104766200-104770400	Weak transcription	NHEK	skin
13	chr12:104766200-104770800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:104766400-104770600	Weak transcription	NH-A	brain
15	chr12:104766400-104775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:104766600-104770600	Weak transcription	Hela-S3	cervix
17	chr12:104766600-104771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:104766800-104774800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:104767200-104775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr12:104767200-104776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:104768200-104770400	Enhancers	A549	lung
22	chr12:104768600-104771000	Weak transcription	Placenta	Placenta
23	chr12:104768800-104775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:104769200-104775400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr12:104769400-104770600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:104770200-104771400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:104770200-104771600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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