Variant report

Variant	rs1800847
Chromosome Location	chr20:22563571-22563572
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	POLR2A	chr20:22563556-22564495	HepG2	liver:	n/a	n/a
2	YY1	chr20:22563399-22563835	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr20:22563566-22564373	HepG2	liver:	n/a	chr20:22564334-22564348 chr20:22563888-22563901
4	SUZ12	chr20:22562266-22564509	NT2-D1	testis:	n/a	n/a
5	TAF1	chr20:22563191-22564570	HepG2	liver:	n/a	n/a
6	POLR2A	chr20:22563114-22564059	A549	lung:	n/a	n/a
7	POLR2A	chr20:22563476-22563898	A549	lung:	n/a	n/a
8	POLR2A	chr20:22562890-22566007	PANC-1	pancreas:	n/a	n/a
9	MAX	chr20:22563461-22566386	A549	lung:	n/a	chr20:22565224-22565234 chr20:22564967-22564977 chr20:22565104-22565114
10	YY1	chr20:22563468-22564292	A549	lung:	n/a	n/a
11	HEY1	chr20:22563556-22566396	HepG2	liver:	n/a	chr20:22565230-22565245 chr20:22565410-22565425 chr20:22565133-22565148 chr20:22565730-22565745 chr20:22565503-22565518 chr20:22565160-22565175
12	POLR2A	chr20:22563337-22566290	HepG2	liver:	n/a	n/a
13	POLR2A	chr20:22563534-22564526	HepG2	liver:	n/a	n/a
14	YY1	chr20:22563267-22564183	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:22563137-22563971	A549	lung:	n/a	n/a
16	POLR2A	chr20:22562988-22564217	HepG2	liver:	n/a	n/a
17	SUZ12	chr20:22562190-22564964	H1-hESC	embryonic stem cell:	n/a	n/a
18	TAF1	chr20:22563187-22564465	HepG2	liver:	n/a	n/a
19	MYBL2	chr20:22563533-22564499	HepG2	liver:	n/a	n/a
20	POLR2A	chr20:22563499-22563911	A549	lung:	n/a	n/a
21	MAX	chr20:22563166-22566464	HepG2	liver:	n/a	chr20:22565224-22565234 chr20:22564967-22564977 chr20:22565104-22565114
22	MAX	chr20:22563110-22566400	A549	lung:	n/a	chr20:22565224-22565234 chr20:22564967-22564977 chr20:22565104-22565114
23	SIN3AK20	chr20:22562459-22564044	PANC-1	pancreas:	n/a	n/a
24	TCF12	chr20:22563510-22568249	A549	lung:	n/a	chr20:22566208-22566218 chr20:22565506-22565513 chr20:22564334-22564344
25	JUND	chr20:22563258-22563775	A549	lung:	n/a	n/a
26	CREB1	chr20:22562981-22566468	HepG2	liver:	n/a	n/a
27	POLR2A	chr20:22563244-22566353	HepG2	liver:	n/a	n/a
28	CTBP2	chr20:22562196-22566241	H1-hESC	embryonic stem cell:	n/a	n/a

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

Variant related genes	Relation type
LINC00261	TF binding region

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

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

rs_ID	r²[population]
rs1055080	0.84[EUR][1000 genomes]
rs1203907	0.80[EUR][1000 genomes]
rs1203910	0.89[EUR][1000 genomes]
rs1203915	0.87[EUR][1000 genomes]
rs1209523	0.89[EUR][1000 genomes]
rs1337918	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1337919	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1337920	0.87[EUR][1000 genomes]
rs1337921	0.87[EUR][1000 genomes]
rs16984154	0.83[ASN][1000 genomes]
rs1974	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003076	0.82[ASN][1000 genomes]
rs2277764	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6036152	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6036157	0.86[ASN][1000 genomes]
rs6036158	0.84[ASN][1000 genomes]
rs6048205	0.83[ASN][1000 genomes]
rs6048206	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048209	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6048216	0.84[ASN][1000 genomes]
rs6113722	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72470563	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7266093	0.86[ASN][1000 genomes]
rs8123991	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs910959	0.86[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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr20:22561600-22566400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr20:22562200-22563800	Transcr. at gene 5' and 3'	Pancreas	Pancrea
4	chr20:22562400-22563800	Transcr. at gene 5' and 3'	Gastric	stomach
5	chr20:22562400-22564200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr20:22562400-22564400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:22562600-22563600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr20:22562600-22563600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr20:22562600-22564400	Bivalent/Poised TSS	Stomach Mucosa	stomach
10	chr20:22562600-22565200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr20:22562800-22563800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr20:22562800-22564400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr20:22562800-22566000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr20:22562800-22566200	Active TSS	Liver	Liver
15	chr20:22562800-22566400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
16	chr20:22562800-22566400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr20:22562800-22566400	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr20:22563000-22563600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:22563000-22563600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
20	chr20:22563000-22563600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
21	chr20:22563000-22563800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
22	chr20:22563000-22564000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
23	chr20:22563000-22564200	Bivalent Enhancer	Fetal Heart	heart
24	chr20:22563000-22564400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
25	chr20:22563000-22565000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr20:22563200-22563600	Bivalent Enhancer	Brain Hippocampus Middle	brain
27	chr20:22563200-22563600	Active TSS	Lung	lung
28	chr20:22563200-22563600	Bivalent/Poised TSS	NHEK	skin
29	chr20:22563200-22563800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
30	chr20:22563200-22563800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
31	chr20:22563200-22564000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr20:22563200-22564200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr20:22563200-22564400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
34	chr20:22563200-22564400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
35	chr20:22563200-22564400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr20:22563200-22564400	Bivalent Enhancer	Left Ventricle	heart
37	chr20:22563200-22564400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
38	chr20:22563200-22565000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:22563200-22565800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
40	chr20:22563200-22566000	Bivalent Enhancer	Fetal Brain Male	brain
41	chr20:22563200-22566200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr20:22563400-22563600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
43	chr20:22563400-22563600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr20:22563400-22563600	Bivalent Enhancer	Esophagus	oesophagus
45	chr20:22563400-22563600	Bivalent Enhancer	Ovary	ovary
46	chr20:22563400-22563600	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
47	chr20:22563400-22563600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr20:22563400-22563600	Flanking Bivalent TSS/Enh	Spleen	Spleen
49	chr20:22563400-22563600	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr20:22563400-22563800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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