Variant report

Variant	rs56392934
Chromosome Location	chr12:20612677-20612678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10770662	0.82[ASN][1000 genomes]
rs10770663	0.82[ASN][1000 genomes]
rs10770664	0.85[ASN][1000 genomes]
rs10841527	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10841537	0.96[ASN][1000 genomes]
rs10841538	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10841539	0.80[ASN][1000 genomes]
rs10841540	0.80[ASN][1000 genomes]
rs11045249	0.88[ASN][1000 genomes]
rs11045250	0.90[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11045251	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11045255	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11045262	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11045263	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12298038	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12311557	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12317326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12423286	0.81[EUR][1000 genomes]
rs12424700	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12427036	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4762756	0.87[ASN][1000 genomes]
rs4762758	0.89[ASN][1000 genomes]
rs56040734	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56050603	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56150763	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61584046	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73069202	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7308231	0.85[ASN][1000 genomes]
rs7487340	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7952834	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7962446	0.91[ASN][1000 genomes]
rs7962871	0.91[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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20588200-20618400	Weak transcription	Ovary	ovary
2	chr12:20599600-20613800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:20604400-20621600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:20605000-20613000	Weak transcription	Aorta	Aorta
5	chr12:20606000-20612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:20606000-20616600	Weak transcription	A549	lung
7	chr12:20606400-20612800	Weak transcription	Left Ventricle	heart
8	chr12:20607800-20645000	Weak transcription	Right Ventricle	heart
9	chr12:20608800-20613000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:20609000-20618800	Weak transcription	Osteobl	bone
11	chr12:20609000-20619000	Weak transcription	NHDF-Ad	bronchial
12	chr12:20609200-20612800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:20611200-20612800	Enhancers	Fetal Intestine Large	intestine
14	chr12:20611400-20615000	Enhancers	Fetal Intestine Small	intestine
15	chr12:20611800-20612800	Weak transcription	Small Intestine	intestine
16	chr12:20611800-20613800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:20611800-20621200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:20612000-20617600	Weak transcription	Hela-S3	cervix
19	chr12:20612600-20614800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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