Variant report

Variant	rs7967762
Chromosome Location	chr12:48420214-48420215
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1018973	0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes]
rs10492080	0.80[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap]
rs10783226	0.83[EUR][1000 genomes]
rs10783227	0.87[EUR][1000 genomes]
rs10783232	0.81[TSI][hapmap]
rs11168455	0.81[TSI][hapmap]
rs11609399	0.80[CEU][hapmap]
rs11612578	0.81[CEU][hapmap];0.81[YRI][hapmap];0.92[EUR][1000 genomes]
rs11612970	0.85[EUR][1000 genomes]
rs11613485	0.87[CEU][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs12580764	0.88[EUR][1000 genomes]
rs12581972	0.81[EUR][1000 genomes]
rs1476608	0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs1635526	0.80[EUR][1000 genomes]
rs17122611	0.88[EUR][1000 genomes]
rs17122612	0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs17122613	0.86[EUR][1000 genomes]
rs17122651	0.87[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs1793931	0.82[EUR][1000 genomes]
rs1793933	0.82[EUR][1000 genomes]
rs1859441	0.93[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1859444	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1968071	0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.82[EUR][1000 genomes]
rs1990029	0.91[EUR][1000 genomes]
rs2286022	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3742074	0.87[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs3803183	0.87[EUR][1000 genomes]
rs3803184	0.87[EUR][1000 genomes]
rs3825404	0.81[CEU][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs4141065	0.80[CEU][hapmap]
rs4293182	0.86[EUR][1000 genomes]
rs4589362	0.82[EUR][1000 genomes]
rs4760611	0.80[CEU][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs4760614	0.93[EUR][1000 genomes]
rs4760615	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4760616	0.90[ASN][1000 genomes]
rs4760617	0.90[ASN][1000 genomes]
rs4760618	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4760620	0.80[CEU][hapmap];0.92[TSI][hapmap]
rs4760677	0.93[EUR][1000 genomes]
rs4760683	0.92[TSI][hapmap]
rs4760698	0.81[TSI][hapmap]
rs57054831	0.82[EUR][1000 genomes]
rs57380031	0.86[EUR][1000 genomes]
rs58046797	0.82[EUR][1000 genomes]
rs59766465	0.87[EUR][1000 genomes]
rs60567660	0.82[EUR][1000 genomes]
rs60629297	0.87[EUR][1000 genomes]
rs60681522	0.88[EUR][1000 genomes]
rs6580647	0.81[CEU][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs6580649	0.81[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6580651	0.93[EUR][1000 genomes]
rs7132668	0.90[EUR][1000 genomes]
rs7133249	0.88[EUR][1000 genomes]
rs726354	0.80[CEU][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap]
rs72644841	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72644842	0.93[EUR][1000 genomes]
rs72644843	0.88[EUR][1000 genomes]
rs72644844	0.88[EUR][1000 genomes]
rs7296913	0.86[CEU][hapmap];0.92[TSI][hapmap];0.82[EUR][1000 genomes]
rs7305954	0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs7310579	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7312326	0.82[EUR][1000 genomes]
rs7315258	0.92[TSI][hapmap]
rs757556	0.80[CEU][hapmap]
rs7957764	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7959755	0.87[CEU][hapmap];0.93[EUR][1000 genomes]
rs7963934	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs7969749	0.80[CEU][hapmap]
rs7971668	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs879242	0.80[CEU][hapmap]
rs9651993	0.91[EUR][1000 genomes]
rs9805048	0.88[TSI][hapmap];0.91[EUR][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	nsv832401	chr12:48347453-48477999	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7967762	ZNF641	cis	Whole Blood	GTEx
rs7967762	ASB8	cis	parietal	SCAN
rs7967762	PFKM	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48415800-48420400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:48416800-48423400	Weak transcription	Right Atrium	heart
3	chr12:48417600-48420800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:48417800-48421400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:48417800-48423400	Weak transcription	Fetal Lung	lung
6	chr12:48418000-48422200	Weak transcription	Fetal Heart	heart
7	chr12:48418200-48422200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr12:48418200-48424200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48418400-48425800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:48418600-48421000	Enhancers	Fetal Intestine Small	intestine
11	chr12:48418600-48425200	Enhancers	Fetal Intestine Large	intestine
12	chr12:48418800-48421000	Weak transcription	Right Ventricle	heart
13	chr12:48419200-48422400	Weak transcription	K562	blood
14	chr12:48419400-48420400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:48419600-48421000	Enhancers	HepG2	liver
16	chr12:48419800-48421400	Enhancers	Fetal Thymus	thymus
17	chr12:48420000-48420400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr12:48420000-48422400	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:48420000-48424200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:48420200-48422800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:48420200-48423800	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:48420200-48424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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