Variant report

Variant	rs13042122
Chromosome Location	chr20:14450889-14450890
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10485774	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11698487	0.93[ASN][1000 genomes]
rs2064808	1.00[ASN][1000 genomes]
rs391759	1.00[ASN][1000 genomes]
rs416534	0.99[ASN][1000 genomes]
rs433880	0.99[ASN][1000 genomes]
rs445417	1.00[ASN][1000 genomes]
rs6074733	0.97[ASN][1000 genomes]
rs6074737	0.97[ASN][1000 genomes]
rs6074738	0.99[ASN][1000 genomes]
rs6074740	0.97[ASN][1000 genomes]
rs6074741	0.90[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6079428	0.86[ASN][1000 genomes]
rs6079434	0.96[ASN][1000 genomes]
rs6079438	0.97[ASN][1000 genomes]
rs6079439	0.97[ASN][1000 genomes]
rs6079446	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6079461	0.92[ASN][1000 genomes]
rs6110290	0.99[ASN][1000 genomes]
rs6110293	0.99[ASN][1000 genomes]
rs6131581	0.99[ASN][1000 genomes]
rs6131584	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6131587	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6135146	0.97[ASN][1000 genomes]
rs6135147	0.99[ASN][1000 genomes]
rs6135153	0.86[ASN][1000 genomes]
rs6135154	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6135155	0.95[ASN][1000 genomes]
rs8122234	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs913004	0.91[AFR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057486	chr20:14077828-14469129	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv585440	chr20:14352394-14457834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1063733	chr20:14357857-14459453	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv585441	chr20:14374573-14455497	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1064721	chr20:14384931-14648223	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv833926	chr20:14410153-14572336	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2763219	chr20:14415228-14455497	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv585442	chr20:14420556-14485947	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1065426	chr20:14426642-14478256	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1059770	chr20:14432394-14549781	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv544187	chr20:14432394-14549781	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv817882	chr20:14434250-14457834	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	nsv529577	chr20:14434373-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv965933	chr20:14438430-14464613	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14444600-14451200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:14447600-14451000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:14448200-14451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr20:14448400-14451000	Weak transcription	Colonic Mucosa	Colon
5	chr20:14448400-14451000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr20:14448400-14451200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:14450800-14451200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr20:14450800-14451200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr20:14450800-14451400	Flanking Active TSS	Liver	Liver
10	chr20:14450800-14451400	Enhancers	Stomach Mucosa	stomach
11	chr20:14450800-14451400	Flanking Active TSS	A549	lung
12	chr20:14450800-14451400	Flanking Active TSS	HepG2	liver
13	chr20:14450800-14451800	Enhancers	Duodenum Mucosa	Duodenum
14	chr20:14450800-14451800	Enhancers	Fetal Intestine Small	intestine
15	chr20:14450800-14451800	Enhancers	Gastric	stomach
16	chr20:14450800-14452000	Enhancers	Fetal Intestine Large	intestine
17	chr20:14450800-14452000	Enhancers	Pancreas	Pancrea
18	chr20:14450800-14452200	Enhancers	H1 Cell Line	embryonic stem cell
19	chr20:14450800-14452800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr20:14450800-14461400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links