Variant report

Variant	rs7133921
Chromosome Location	chr12:20540700-20540701
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10734701	1.00[ASN][1000 genomes]
rs10743369	1.00[ASN][1000 genomes]
rs10770655	1.00[ASN][1000 genomes]
rs10841515	1.00[ASN][1000 genomes]
rs12370696	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373572	1.00[ASN][1000 genomes]
rs1373573	1.00[ASN][1000 genomes]
rs1444631	1.00[ASN][1000 genomes]
rs1444633	1.00[ASN][1000 genomes]
rs1530445	1.00[ASN][1000 genomes]
rs1822751	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1822752	1.00[ASN][1000 genomes]
rs1822753	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822756	1.00[ASN][1000 genomes]
rs2417850	1.00[ASN][1000 genomes]
rs3919734	1.00[ASN][1000 genomes]
rs4762752	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4762950	0.82[EUR][1000 genomes]
rs4762951	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5007546	1.00[ASN][1000 genomes]
rs5014038	1.00[ASN][1000 genomes]
rs7299430	1.00[ASN][1000 genomes]
rs7964191	1.00[ASN][1000 genomes]
rs7964703	1.00[ASN][1000 genomes]
rs7979838	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1042315	chr12:20531641-20629866	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20525600-20543000	Weak transcription	NHDF-Ad	bronchial
2	chr12:20526800-20541000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:20528600-20542000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:20533000-20541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:20533200-20544800	Weak transcription	Right Atrium	heart
6	chr12:20534600-20542200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:20536800-20542000	Weak transcription	Aorta	Aorta
8	chr12:20536800-20542000	Weak transcription	Right Ventricle	heart
9	chr12:20536800-20542200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:20536800-20542400	Weak transcription	A549	lung
11	chr12:20537000-20541400	Weak transcription	Hela-S3	cervix
12	chr12:20537800-20542000	Weak transcription	Fetal Intestine Small	intestine
13	chr12:20538200-20550400	Weak transcription	HUVEC	blood vessel
14	chr12:20538200-20558000	Weak transcription	Left Ventricle	heart
15	chr12:20540200-20544000	Enhancers	Colon Smooth Muscle	Colon
16	chr12:20540400-20542400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr12:20540600-20546200	Enhancers	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links