Variant report

Variant	rs7309214
Chromosome Location	chr12:66868032-66868033
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10219502	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10219504	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10219746	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10748046	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10784542	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784543	0.81[ASN][1000 genomes]
rs10878426	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10878427	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10878428	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10878429	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10878430	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10878431	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10878432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10878433	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176194	0.87[AMR][1000 genomes]
rs11176198	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11176208	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11176210	0.81[ASN][1000 genomes]
rs11176216	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12366637	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12366955	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371843	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372784	0.81[ASN][1000 genomes]
rs12809616	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12817312	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12830991	0.81[ASN][1000 genomes]
rs1826545	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2904515	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36196058	0.81[ASN][1000 genomes]
rs3891950	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128160	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7961823	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs866954	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs883229	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs883230	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs883231	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs931512	0.81[ASN][1000 genomes]
rs952562	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs952563	0.87[AMR][1000 genomes];0.80[EUR][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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1051713	chr12:66745716-66889411	Strong transcription Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv832447	chr12:66785814-66990029	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv469459	chr12:66854354-66950289	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv559206	chr12:66854354-66950289	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66853000-66876200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:66856800-66868400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:66860200-66868400	Weak transcription	Esophagus	oesophagus
4	chr12:66866600-66868400	Weak transcription	Gastric	stomach
5	chr12:66867000-66868400	Weak transcription	Right Atrium	heart
6	chr12:66867200-66868400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:66867200-66868400	Weak transcription	Pancreas	Pancrea
8	chr12:66867800-66868200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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