Variant report

Variant	rs2423785
Chromosome Location	chr20:14451409-14451410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1815494	0.83[AMR][1000 genomes]
rs401650	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs422154	0.95[AFR][1000 genomes];0.83[AMR][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14448200-14451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:14450800-14451800	Enhancers	Duodenum Mucosa	Duodenum
3	chr20:14450800-14451800	Enhancers	Fetal Intestine Small	intestine
4	chr20:14450800-14451800	Enhancers	Gastric	stomach
5	chr20:14450800-14452000	Enhancers	Fetal Intestine Large	intestine
6	chr20:14450800-14452000	Enhancers	Pancreas	Pancrea
7	chr20:14450800-14452200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr20:14450800-14452800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr20:14450800-14461400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:14451000-14451600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr20:14451000-14451600	Enhancers	Colonic Mucosa	Colon
12	chr20:14451000-14451600	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr20:14451000-14451800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr20:14451000-14452000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:14451000-14452000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr20:14451000-14452600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr20:14451200-14451600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:14451200-14451800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:14451200-14451800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr20:14451200-14452000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr20:14451200-14452600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:14451400-14452000	Enhancers	Liver	Liver
23	chr20:14451400-14452000	Weak transcription	Stomach Mucosa	stomach
24	chr20:14451400-14452000	Enhancers	HepG2	liver
25	chr20:14451400-14452200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr20:14451400-14452400	Enhancers	A549	lung

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