Variant report

Variant	rs503667
Chromosome Location	chr12:121088750-121088751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1151872	0.83[CHD][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1151873	0.83[CHD][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1151874	0.92[CEU][hapmap];0.92[GIH][hapmap];0.84[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs1616213	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs2686555	0.80[MEX][hapmap]
rs2686556	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2859267	0.80[EUR][1000 genomes]
rs569499	0.80[MEX][hapmap]
rs693074	0.80[CEU][hapmap];0.84[TSI][hapmap]
rs693388	0.80[CEU][hapmap];0.83[CHD][hapmap];0.80[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs503667	KDM2B	cis	cerebellum	SCAN
rs503667	TAOK3	cis	parietal	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121086800-121089400	Active TSS	Psoas Muscle	Psoas
2	chr12:121087200-121089000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121087200-121089000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
4	chr12:121087200-121091000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:121087400-121089800	Active TSS	Left Ventricle	heart
6	chr12:121087600-121089000	Active TSS	Rectal Smooth Muscle	rectum
7	chr12:121087600-121089400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:121087600-121090000	Active TSS	Brain Angular Gyrus	brain
9	chr12:121087600-121090200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:121087600-121096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:121087800-121089200	Weak transcription	A549	lung
12	chr12:121087800-121089400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:121087800-121089400	Weak transcription	Esophagus	oesophagus
14	chr12:121087800-121089600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr12:121087800-121093000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:121088000-121088800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr12:121088000-121089000	Active TSS	Colon Smooth Muscle	Colon
18	chr12:121088000-121089200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:121088000-121089200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:121088000-121089800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr12:121088200-121088800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:121088200-121089200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:121088200-121089400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:121088200-121089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:121088200-121089400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr12:121088200-121090600	Weak transcription	Brain Anterior Caudate	brain
27	chr12:121088200-121092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr12:121088400-121088800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
29	chr12:121088400-121088800	Weak transcription	Placenta	Placenta
30	chr12:121088400-121089200	Weak transcription	Right Atrium	heart
31	chr12:121088400-121089400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:121088400-121089400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
33	chr12:121088400-121090600	Weak transcription	GM12878-XiMat	blood
34	chr12:121088600-121088800	Enhancers	Spleen	Spleen
35	chr12:121088600-121089000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:121088600-121089200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr12:121088600-121090400	Weak transcription	Brain Hippocampus Middle	brain
38	chr12:121088600-121090600	Weak transcription	Right Ventricle	heart

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