Variant report

Variant	rs1337918
Chromosome Location	chr20:22567608-22567609
allele	A/C
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	CTCF	chr20:22567500-22567650	NHEK	skin:	n/a	n/a
2	CTCF	chr20:22567480-22567630	HAc	cerebellar:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
3	HDAC2	chr20:22567303-22567705	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr20:22567460-22567610	HCM	heart:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
5	CTBP2	chr20:22566496-22567946	H1-hESC	embryonic stem cell:	n/a	n/a
6	ARID3A	chr20:22567319-22567814	HepG2	liver:	n/a	n/a
7	CTCF	chr20:22567172-22567937	HepG2	liver:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
8	CTCF	chr20:22567356-22567630	GM12892	blood:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
9	ZBTB7A	chr20:22567311-22567608	K562	blood:	n/a	chr20:22567364-22567373 chr20:22567482-22567491
10	CTCF	chr20:22567460-22567610	SK-N-SH_RA	brain:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
11	POLR2A	chr20:22567391-22567645	A549	lung:	n/a	n/a
12	CTCF	chr20:22567460-22567610	GM12865	blood:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
13	CTCF	chr20:22567460-22567610	MCF-7	breast:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
14	RAD21	chr20:22567263-22567621	K562	blood:	n/a	n/a
15	CTCF	chr20:22567362-22567623	LNCaP	prostate:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
16	CTCF	chr20:22567460-22567610	HRE	kidney:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
17	CTCF	chr20:22567255-22567614	K562	blood:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
18	HNF4A	chr20:22567189-22567624	HepG2	liver:	n/a	chr20:22567386-22567401 chr20:22567386-22567401
19	ZNF143	chr20:22567373-22567642	GM12878	blood:	n/a	n/a
20	CHD2	chr20:22567377-22567636	HepG2	liver:	n/a	n/a
21	CTCF	chr20:22567181-22567813	MCF-7	breast:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
22	TBP	chr20:22567360-22567966	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr20:22567223-22567630	SK-N-SH	brain:	n/a	n/a
24	MAZ	chr20:22567191-22567891	HepG2	liver:	n/a	n/a
25	SUZ12	chr20:22565354-22567935	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr20:22567095-22567896	HCT-116	colon:	n/a	n/a
27	EP300	chr20:22567322-22567660	HepG2	liver:	n/a	n/a
28	UBTF	chr20:22567404-22567664	K562	blood:	n/a	n/a
29	RAD21	chr20:22567274-22567658	GM12878	blood:	n/a	n/a
30	RAD21	chr20:22567249-22567791	MCF-7	breast:	n/a	n/a
31	CTCF	chr20:22567388-22567608	GM10248	blood:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
32	CTCF	chr20:22567370-22567614	GM13977	blood:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
33	SP1	chr20:22567148-22567771	A549	lung:	n/a	chr20:22567401-22567415
34	RCOR1	chr20:22567197-22567741	K562	blood:	n/a	n/a
35	RAD21	chr20:22567249-22567685	MCF-7	breast:	n/a	n/a
36	BACH1	chr20:22567142-22567919	H1-hESC	embryonic stem cell:	n/a	n/a
37	E2F6	chr20:22567403-22568005	A549	lung:	n/a	n/a
38	RAD21	chr20:22566975-22567964	HepG2	liver:	n/a	n/a
39	YY1	chr20:22567194-22567890	HepG2	liver:	n/a	n/a
40	MAFK	chr20:22567417-22567628	HepG2	liver:	n/a	n/a
41	CTCF	chr20:22567311-22567707	MCF-7	breast:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
42	SMC3	chr20:22567180-22567944	HepG2	liver:	n/a	chr20:22567442-22567456
43	HNF4A	chr20:22567214-22567664	HepG2	liver:	n/a	chr20:22567386-22567401 chr20:22567386-22567401
44	ZNF263	chr20:22566921-22568355	HEK293-T-REx	kidney:	n/a	chr20:22567911-22567920
45	SMC3	chr20:22567207-22567680	GM12878	blood:	n/a	chr20:22567442-22567456
46	ZBTB7A	chr20:22567232-22567684	HepG2	liver:	n/a	chr20:22567364-22567373 chr20:22567482-22567491
47	RCOR1	chr20:22566926-22567883	HepG2	liver:	n/a	n/a
48	RAD21	chr20:22567203-22567731	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr20:22567199-22567871	H1-hESC	embryonic stem cell:	n/a	chr20:22567481-22567499 chr20:22567482-22567498
50	RAD21	chr20:22567079-22567767	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:22319446..22320369-chr20:22567291..22568037,4	MCF-7	breast:
2	chr20:22563678..22565850-chr20:22566909..22570502,3	K562	blood:
3	chr20:22366314..22367169-chr20:22567127..22567944,2	K562	blood:
4	chr20:22319372..22320425-chr20:22567034..22567962,6	K562	blood:

Variant related genes	Relation type
FOXA2	TF binding region
ENSG00000125798	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1055080	0.88[EUR][1000 genomes]
rs1203905	0.83[EUR][1000 genomes]
rs1203907	0.84[EUR][1000 genomes]
rs1203910	0.89[EUR][1000 genomes]
rs1203915	0.96[EUR][1000 genomes]
rs1209523	0.98[EUR][1000 genomes]
rs1337919	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337920	0.96[EUR][1000 genomes]
rs1337921	0.96[EUR][1000 genomes]
rs16984154	0.87[ASN][1000 genomes]
rs1800847	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1974	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2003076	0.86[ASN][1000 genomes]
rs2277764	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036152	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6036157	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6036158	0.88[ASN][1000 genomes]
rs6048205	0.85[ASN][1000 genomes]
rs6048206	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048209	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6048216	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6113722	0.83[ASN][1000 genomes]
rs72470563	0.85[ASN][1000 genomes]
rs7266093	0.90[ASN][1000 genomes]
rs8123991	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs910959	0.87[AFR][1000 genomes];0.90[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	chr20:22561200-22567800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr20:22567000-22567800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr20:22567000-22567800	Bivalent Enhancer	Placenta	Placenta
4	chr20:22567000-22567800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
5	chr20:22567000-22568000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr20:22567200-22567800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:22567200-22567800	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr20:22567200-22567800	Bivalent Enhancer	Left Ventricle	heart
9	chr20:22567200-22567800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr20:22567200-22567800	Active TSS	Right Atrium	heart
11	chr20:22567200-22567800	Enhancers	K562	blood
12	chr20:22567200-22568000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr20:22567200-22568000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr20:22567200-22568000	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr20:22567200-22568000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr20:22567400-22567800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr20:22567400-22567800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr20:22567400-22567800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
19	chr20:22567400-22567800	Bivalent Enhancer	Lung	lung
20	chr20:22567400-22567800	Active TSS	Pancreas	Pancrea
21	chr20:22567400-22567800	Active TSS	A549	lung
22	chr20:22567400-22567800	Bivalent/Poised TSS	HSMM	muscle
23	chr20:22567400-22568000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr20:22567400-22568000	Active TSS	Liver	Liver
25	chr20:22567400-22568000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr20:22567400-22568000	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr20:22567400-22568000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
28	chr20:22567400-22568200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
29	chr20:22567600-22567800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr20:22567600-22567800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
33	chr20:22567600-22567800	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr20:22567600-22567800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
35	chr20:22567600-22567800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
38	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
39	chr20:22567600-22567800	Bivalent/Poised TSS	Stomach Mucosa	stomach
40	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr20:22567600-22567800	Flanking Bivalent TSS/Enh	HMEC	breast
42	chr20:22567600-22568000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
43	chr20:22567600-22568000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr20:22567600-22568000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr20:22567600-22568000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr20:22567600-22568000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
47	chr20:22567600-22568200	Flanking Bivalent TSS/Enh	HepG2	liver

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