Variant report

Variant	rs1530445
Chromosome Location	chr12:20534399-20534400
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10734701	1.00[ASN][1000 genomes]
rs10743369	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743370	0.91[EUR][1000 genomes]
rs10770655	1.00[ASN][1000 genomes]
rs10841501	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10841515	1.00[ASN][1000 genomes]
rs12370696	1.00[ASN][1000 genomes]
rs1373572	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373573	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444631	1.00[ASN][1000 genomes]
rs1444633	1.00[ASN][1000 genomes]
rs1822751	1.00[ASN][1000 genomes]
rs1822752	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822753	1.00[ASN][1000 genomes]
rs1822756	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417850	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3919734	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4537840	0.87[AMR][1000 genomes]
rs4762752	1.00[ASN][1000 genomes]
rs4762951	1.00[ASN][1000 genomes]
rs5007546	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs5014038	1.00[ASN][1000 genomes]
rs7133921	1.00[ASN][1000 genomes]
rs7299430	1.00[ASN][1000 genomes]
rs7305462	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7964191	1.00[ASN][1000 genomes]
rs7964703	1.00[ASN][1000 genomes]
rs7979838	1.00[ASN][1000 genomes]
rs935258	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][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	chr12:20526400-20537600	Weak transcription	Fetal Stomach	stomach
3	chr12:20526600-20536800	Enhancers	Colon Smooth Muscle	Colon
4	chr12:20526800-20541000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:20528000-20536600	Weak transcription	Left Ventricle	heart
6	chr12:20528600-20542000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:20530000-20534600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr12:20532400-20535400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:20532600-20534800	Weak transcription	Fetal Intestine Small	intestine
10	chr12:20532600-20536600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:20532800-20535400	Weak transcription	A549	lung
12	chr12:20533000-20535400	Genic enhancers	Hela-S3	cervix
13	chr12:20533000-20541400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:20533200-20544800	Weak transcription	Right Atrium	heart
15	chr12:20533400-20536400	Weak transcription	Aorta	Aorta
16	chr12:20533800-20535600	Enhancers	Fetal Intestine Large	intestine
17	chr12:20534000-20536800	Enhancers	Rectal Smooth Muscle	rectum

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