Variant report

Variant	rs1203910
Chromosome Location	chr20:22563025-22563026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr20:22562266-22564509	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr20:22562587-22563534	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr20:22562890-22566007	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr20:22562988-22564217	HepG2	liver:	n/a	n/a
5	SUZ12	chr20:22562190-22564964	H1-hESC	embryonic stem cell:	n/a	n/a
6	TCF7L2	chr20:22562865-22563203	PANC-1	pancreas:	n/a	n/a
7	SIN3AK20	chr20:22562459-22564044	PANC-1	pancreas:	n/a	n/a
8	YY1	chr20:22562547-22563254	HepG2	liver:	n/a	chr20:22562655-22562672
9	CREB1	chr20:22562981-22566468	HepG2	liver:	n/a	n/a
10	HEY1	chr20:22562801-22563547	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:22562995-22563512	HepG2	liver:	n/a	n/a
12	CTBP2	chr20:22562196-22566241	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22560956..22563425-chr7:98474991..98476982,2	MCF-7	breast:
2	chr20:22554317..22556878-chr20:22561065..22563587,2	MCF-7	breast:

Variant related genes	Relation type
LINC00261	TF binding region
ENSG00000196367	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1055080	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1203898	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1203899	0.82[ASN][1000 genomes]
rs1203902	0.87[ASN][1000 genomes]
rs1203905	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1203907	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1203915	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1203918	0.89[ASN][1000 genomes]
rs1203919	0.88[ASN][1000 genomes]
rs1209523	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1337918	0.89[EUR][1000 genomes]
rs1337919	0.87[EUR][1000 genomes]
rs1337920	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1337921	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1800847	0.89[EUR][1000 genomes]
rs1974	0.90[EUR][1000 genomes]
rs2277764	0.91[EUR][1000 genomes]
rs6036152	0.84[EUR][1000 genomes]
rs6048202	0.81[EUR][1000 genomes]
rs6048206	0.88[EUR][1000 genomes]
rs6048209	0.89[EUR][1000 genomes]
rs6113722	0.85[EUR][1000 genomes]
rs72470563	0.85[EUR][1000 genomes]
rs8123991	0.87[EUR][1000 genomes]
rs910958	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428690	chr20:22528757-22649625	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22560600-22563400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr20:22561400-22563400	Transcr. at gene 5' and 3'	A549	lung
4	chr20:22561600-22566400	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr20:22562200-22563400	Transcr. at gene 5' and 3'	HepG2	liver
6	chr20:22562200-22563800	Transcr. at gene 5' and 3'	Pancreas	Pancrea
7	chr20:22562400-22563200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:22562400-22563200	Bivalent Enhancer	Fetal Intestine Small	intestine
9	chr20:22562400-22563200	Transcr. at gene 5' and 3'	Lung	lung
10	chr20:22562400-22563800	Transcr. at gene 5' and 3'	Gastric	stomach
11	chr20:22562400-22564200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr20:22562400-22564400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr20:22562600-22563200	Bivalent Enhancer	Adipose Nuclei	Adipose
14	chr20:22562600-22563200	Bivalent Enhancer	Brain Anterior Caudate	brain
15	chr20:22562600-22563200	Bivalent Enhancer	Colonic Mucosa	Colon
16	chr20:22562600-22563200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
17	chr20:22562600-22563400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr20:22562600-22563400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr20:22562600-22563600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:22562600-22563600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr20:22562600-22564400	Bivalent/Poised TSS	Stomach Mucosa	stomach
22	chr20:22562600-22565200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr20:22562800-22563400	Bivalent Enhancer	Spleen	Spleen
24	chr20:22562800-22563800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr20:22562800-22564400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr20:22562800-22566000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:22562800-22566200	Active TSS	Liver	Liver
28	chr20:22562800-22566400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr20:22562800-22566400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr20:22562800-22566400	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr20:22563000-22563200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr20:22563000-22563200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:22563000-22563200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
34	chr20:22563000-22563200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr20:22563000-22563200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
36	chr20:22563000-22563400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr20:22563000-22563400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr20:22563000-22563400	Bivalent Enhancer	Psoas Muscle	Psoas
39	chr20:22563000-22563400	Bivalent/Poised TSS	HMEC	breast
40	chr20:22563000-22563600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr20:22563000-22563600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
42	chr20:22563000-22563600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr20:22563000-22563800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
44	chr20:22563000-22564000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
45	chr20:22563000-22564200	Bivalent Enhancer	Fetal Heart	heart
46	chr20:22563000-22564400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
47	chr20:22563000-22565000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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