Variant report

Variant	rs16935257
Chromosome Location	chr12:30167493-30167494
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10506051	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579215	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12580070	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12809421	0.90[AFR][1000 genomes]
rs12810035	0.81[AFR][1000 genomes]
rs12810169	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12810624	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12811534	0.81[AFR][1000 genomes]
rs12811826	0.90[AFR][1000 genomes]
rs12812656	0.81[AFR][1000 genomes]
rs12814936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12815048	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12815280	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12816189	0.81[AFR][1000 genomes]
rs12816528	0.81[AFR][1000 genomes]
rs12816569	0.81[AFR][1000 genomes]
rs12817452	0.90[AFR][1000 genomes]
rs12817837	0.81[AFR][1000 genomes]
rs12818934	0.90[AFR][1000 genomes]
rs12820126	0.81[AFR][1000 genomes]
rs12820739	0.90[AFR][1000 genomes]
rs12820796	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12821646	0.81[AFR][1000 genomes]
rs12822894	0.90[AFR][1000 genomes]
rs12823127	0.81[AFR][1000 genomes]
rs12823408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12823955	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12826568	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12831913	0.81[AFR][1000 genomes]
rs16935245	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16935247	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1909162	0.81[AFR][1000 genomes]
rs1909168	0.81[AFR][1000 genomes]
rs35348803	0.81[AFR][1000 genomes]
rs36124845	0.81[AFR][1000 genomes]
rs67137600	0.81[AFR][1000 genomes]
rs7306835	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7954597	0.90[AFR][1000 genomes]
rs7963484	0.81[AFR][1000 genomes]
rs7978565	0.81[AFR][1000 genomes]
rs7979671	0.90[AFR][1000 genomes]
rs9300194	0.90[AFR][1000 genomes]
rs9668807	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv826295	chr12:30130336-30207775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16935257	C12orf70	cis	parietal	SCAN
rs16935257	ERGIC2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30162200-30175400	Weak transcription	Aorta	Aorta
2	chr12:30164000-30168800	Weak transcription	Fetal Kidney	kidney
3	chr12:30164600-30169600	Enhancers	Fetal Brain Male	brain
4	chr12:30166200-30169000	Enhancers	Fetal Brain Female	brain
5	chr12:30166400-30167600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:30166800-30168800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:30166800-30171600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:30167200-30168000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:30167400-30167600	Weak transcription	Gastric	stomach
10	chr12:30167400-30167800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:30167400-30167800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:30167400-30169200	Enhancers	Fetal Lung	lung

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