Variant report

Variant	rs16848675
Chromosome Location	chr2:213349997-213349998
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10168850	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs10178687	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10180614	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10194811	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11675580	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11892049	1.00[JPT][hapmap]
rs13015808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13021394	1.00[JPT][hapmap]
rs13021610	1.00[JPT][hapmap]
rs13389790	1.00[CHB][hapmap]
rs1354617	1.00[CHB][hapmap]
rs1384290	0.91[ASN][1000 genomes]
rs1384291	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1394797	1.00[CEU][hapmap]
rs1505372	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16848495	1.00[CEU][hapmap]
rs16848525	1.00[CEU][hapmap]
rs16848530	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16848550	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16848553	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs16848556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16848564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16848571	1.00[CHB][hapmap]
rs16848593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16848684	0.88[YRI][hapmap];0.88[AFR][1000 genomes]
rs16848687	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs16848694	0.86[YRI][hapmap];0.88[AFR][1000 genomes]
rs16848730	1.00[CEU][hapmap];0.89[GIH][hapmap]
rs17259208	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17325821	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs17329875	1.00[JPT][hapmap]
rs2062930	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6735807	1.00[CHB][hapmap];0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs6752299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063184	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73063185	0.84[AFR][1000 genomes]
rs73063189	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73067068	0.88[AFR][1000 genomes]
rs73067070	0.88[AFR][1000 genomes]
rs73067072	0.88[AFR][1000 genomes]
rs73067074	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73067077	0.88[AFR][1000 genomes]
rs73067081	0.88[AFR][1000 genomes]
rs73067085	0.88[AFR][1000 genomes]
rs73069027	0.84[AFR][1000 genomes]
rs73069029	0.84[AFR][1000 genomes]
rs73069031	0.84[AFR][1000 genomes]
rs73069033	0.83[AFR][1000 genomes]
rs73079459	0.97[EUR][1000 genomes]
rs73079470	0.97[EUR][1000 genomes]
rs7569142	1.00[JPT][hapmap]
rs9283525	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs16848675	FABP4	trans	brain	seeQTL
rs16848675	EGR2	trans	brain	seeQTL
rs16848675	PTGS2	trans	brain	seeQTL
rs16848675	CCL4	trans	brain	seeQTL
rs16848675	FOSB	trans	brain	seeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213345600-213350600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:213346800-213352400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:213347000-213350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:213349200-213352400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:213349400-213350400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:213349400-213350800	Enhancers	Brain Anterior Caudate	brain
7	chr2:213349400-213350800	Enhancers	Fetal Heart	heart
8	chr2:213349400-213351400	Enhancers	Brain Substantia Nigra	brain
9	chr2:213349600-213350200	Active TSS	Brain Cingulate Gyrus	brain
10	chr2:213349600-213350200	Enhancers	Brain Hippocampus Middle	brain
11	chr2:213349800-213350400	Weak transcription	Psoas Muscle	Psoas
12	chr2:213349800-213350600	Weak transcription	Aorta	Aorta

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