Variant report

Variant	rs56063556
Chromosome Location	chr20:16554225-16554226
allele	A/G
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	SRF	chr20:16553985-16554271	HepG2	liver:	n/a	chr20:16554026-16554036 chr20:16554157-16554167
2	YY1	chr20:16553905-16554317	HepG2	liver:	n/a	chr20:16554137-16554146 chr20:16554166-16554175 chr20:16554061-16554072 chr20:16554023-16554034 chr20:16554164-16554175 chr20:16554138-16554149 chr20:16554166-16554180 chr20:16554064-16554078 chr20:16554023-16554032
3	TAF1	chr20:16553792-16554416	HepG2	liver:	n/a	n/a
4	ZBTB7A	chr20:16553604-16554455	ECC-1	luminal epithelium:	n/a	chr20:16553831-16553840
5	BCL3	chr20:16553929-16554683	A549	lung:	n/a	chr20:16554025-16554034 chr20:16554162-16554175 chr20:16554154-16554167 chr20:16554144-16554157 chr20:16554026-16554039
6	NRF1	chr20:16553912-16554283	H1-hESC	embryonic stem cell:	n/a	chr20:16554087-16554101
7	MYBL2	chr20:16553684-16554658	HepG2	liver:	n/a	n/a
8	POLR2A	chr20:16553848-16554275	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr20:16553787-16554268	SK-N-SH	brain:	n/a	n/a
10	REST	chr20:16554055-16554260	K562	blood:	n/a	n/a
11	POLR2A	chr20:16553867-16554326	K562	blood:	n/a	n/a
12	MBD4	chr20:16553882-16554680	HepG2	liver:	n/a	n/a
13	REST	chr20:16553704-16554520	A549	lung:	n/a	n/a
14	BRCA1	chr20:16554063-16554485	HepG2	liver:	n/a	n/a
15	POLR2A	chr20:16553647-16554576	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr20:16553864-16554443	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr20:16553762-16554435	HepG2	liver:	n/a	n/a
18	EP300	chr20:16554014-16554251	GM12878	blood:	n/a	chr20:16554141-16554157 chr20:16554138-16554154
19	POLR2A	chr20:16553724-16554413	ECC-1	luminal epithelium:	n/a	n/a
20	TCF12	chr20:16553424-16554825	A549	lung:	n/a	chr20:16553802-16553812
21	TEAD4	chr20:16553989-16554725	HepG2	liver:	n/a	n/a
22	MAX	chr20:16553645-16554534	HepG2	liver:	n/a	n/a
23	TBP	chr20:16553921-16554556	HepG2	liver:	n/a	n/a
24	EGR1	chr20:16553902-16554264	K562	blood:	n/a	chr20:16554021-16554031 chr20:16554140-16554150 chr20:16554021-16554034 chr20:16554022-16554031 chr20:16554003-16554017 chr20:16554006-16554019 chr20:16554018-16554032
25	SP1	chr20:16553626-16554696	A549	lung:	n/a	chr20:16554025-16554039 chr20:16554024-16554036 chr20:16554158-16554168 chr20:16554024-16554036 chr20:16554026-16554035 chr20:16554157-16554169 chr20:16554158-16554167 chr20:16554157-16554168 chr20:16554157-16554169 chr20:16554027-16554040 chr20:16554158-16554168 chr20:16554025-16554034 chr20:16554159-16554168 chr20:16554159-16554168 chr20:16554154-16554168 chr20:16554004-16554018
26	FOXA1	chr20:16553934-16554289	T-47D	breast:	n/a	n/a
27	CEBPD	chr20:16553855-16554422	HepG2	liver:	n/a	n/a
28	ELF1	chr20:16553833-16554576	HepG2	liver:	n/a	chr20:16554138-16554150
29	SP4	chr20:16553906-16554299	H1-hESC	embryonic stem cell:	n/a	chr20:16554003-16554019 chr20:16554155-16554171 chr20:16554157-16554168
30	RFX5	chr20:16553995-16554350	Hela-S3	cervix:	n/a	n/a
31	JUND	chr20:16553802-16554542	K562	blood:	n/a	n/a
32	REST	chr20:16553592-16554472	HepG2	liver:	n/a	n/a
33	HEY1	chr20:16553838-16554424	HepG2	liver:	n/a	chr20:16554161-16554176
34	USF1	chr20:16553885-16554584	H1-hESC	embryonic stem cell:	n/a	chr20:16554102-16554118
35	PAX5	chr20:16554003-16554263	GM12878	blood:	n/a	n/a
36	NRF1	chr20:16553704-16554288	GM12878	blood:	n/a	chr20:16554087-16554101
37	POLR2A	chr20:16553634-16554620	Hela-S3	cervix:	n/a	n/a
38	MAX	chr20:16553945-16554499	GM12878	blood:	n/a	n/a
39	EP300	chr20:16553933-16554255	H1-hESC	embryonic stem cell:	n/a	chr20:16554141-16554157 chr20:16554138-16554154
40	USF1	chr20:16553993-16554479	K562	blood:	n/a	chr20:16554102-16554118
41	ELF1	chr20:16553860-16554271	K562	blood:	n/a	chr20:16554138-16554150
42	USF1	chr20:16553982-16554534	H1-hESC	embryonic stem cell:	n/a	chr20:16554102-16554118
43	MAX	chr20:16553846-16554407	H1-hESC	embryonic stem cell:	n/a	n/a
44	RFX5	chr20:16554009-16554422	K562	blood:	n/a	n/a
45	MAX	chr20:16553470-16554700	HepG2	liver:	n/a	n/a
46	JUND	chr20:16553930-16554303	HepG2	liver:	n/a	n/a
47	EP300	chr20:16553837-16554584	A549	lung:	n/a	chr20:16554141-16554157 chr20:16554138-16554154
48	KAP1	chr20:16554150-16554640	U2OS	brain:	n/a	chr20:16554505-16554513
49	TBL1XR1	chr20:16554011-16554540	K562	blood:	n/a	n/a
50	MAX	chr20:16553810-16554678	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:16554217-16554267	AoSMC	blood vessel:	n/a
2	chr20:16554217-16554267	HMEC	breast:	n/a
3	chr20:16554217-16554267	HRCEpiC	kidney:	n/a
4	chr20:16554217-16554267	HRE	kidney:	n/a
5	chr20:16554217-16554267	HCT-116	colon:	n/a
6	chr20:16554217-16554267	GM12891	blood:	n/a
7	chr20:16554217-16554267	Jurkat	blood:	n/a
8	chr20:16554217-16554267	HUVEC	blood vessel:	n/a
9	chr20:16554217-16554267	SKMC	muscle:	n/a
10	chr20:16554217-16554267	PANC-1	pancreas:	n/a
11	chr20:16554217-16554267	AG04449	skin:	fetal
12	chr20:16554217-16554267	AG04450	lung:	fetal
13	chr20:16554217-16554267	HEEpiC	esophagus:	n/a
14	chr20:16554217-16554267	HCF	heart:	n/a
15	chr20:16554217-16554267	MCF-7	breast:	n/a
16	chr20:16554217-16554267	BE2_C	brain:	n/a
17	chr20:16554217-16554267	Hela-S3	cervix:	n/a
18	chr20:16554217-16554267	GM06990	blood:	n/a
19	chr20:16554217-16554267	AG10803	skin:	n/a
20	chr20:16554217-16554267	H1-hESC	embryonic stem cell:	embryo
21	chr20:16554217-16554267	LNCaP	prostate:	n/a
22	chr20:16554217-16554267	HIPEpiC	eye:	n/a
23	chr20:16554217-16554267	AG09319	gingival:	n/a
24	chr20:16554217-16554267	ECC-1	luminal epithelium:	n/a
25	chr20:16554217-16554267	NT2-D1	testis:	n/a
26	chr20:16554217-16554267	GM12892	blood:	n/a
27	chr20:16554217-16554267	ProgFib	skin:	n/a
28	chr20:16554217-16554267	Caco-2	colon:	n/a
29	chr20:16554217-16554267	NHBE	bronchial:	n/a
30	chr20:16554217-16554267	MCF10A-Er-Src	breast:	n/a
31	chr20:16554217-16554267	RPTEC	kidney:	n/a
32	chr20:16554217-16554267	HAEpiC	amniotic membrane:	n/a
33	chr20:16554217-16554267	CMK	blood:	n/a
34	chr20:16554217-16554267	A549	lung:	n/a
35	chr20:16554217-16554267	Hepatocyte	liver:	n/a
36	chr20:16554217-16554267	HNPCEpiC	eye:	n/a
37	chr20:16554217-16554267	K562	blood:	n/a
38	chr20:16554217-16554267	T-47D	breast:	n/a
39	chr20:16554217-16554267	NB4	blood:	n/a
40	chr20:16554217-16554267	IMR90	lung:	fetal
41	chr20:16554217-16554267	HL-60	blood:	n/a
42	chr20:16554217-16554267	SK-N-MC	brain:	n/a
43	chr20:16554217-16554267	NHDF-neo	bronchial:	n/a
44	chr20:16554217-16554267	HRPEpiC	eye:	n/a
45	chr20:16554217-16554267	HCPEpiC	choroid plexus:	n/a
46	chr20:16554217-16554267	ovcar-3	ovarian:	n/a
47	chr20:16554217-16554267	U87	brain:	n/a
48	chr20:16554217-16554267	PFSK-1	brain:	n/a
49	chr20:16554217-16554267	GM19239	blood:	n/a
50	chr20:16554217-16554267	NH-A	brain:	n/a

Variant related genes	Relation type
KIF16B	TF binding region
KIF16B	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12480359	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12480414	0.85[ASN][1000 genomes]
rs12480716	0.89[AMR][1000 genomes]
rs12481267	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481278	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12481431	0.89[AMR][1000 genomes]
rs17675170	0.89[AMR][1000 genomes]
rs2152188	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56055024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16551800-16555000	Active TSS	Colonic Mucosa	Colon
2	chr20:16552200-16556600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr20:16552400-16555000	Active TSS	Ovary	ovary
4	chr20:16552800-16555000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:16552800-16555000	Active TSS	K562	blood
6	chr20:16552800-16555200	Active TSS	Rectal Smooth Muscle	rectum
7	chr20:16552800-16556400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr20:16552800-16556400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr20:16553000-16554400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr20:16553000-16554400	Active TSS	Fetal Intestine Large	intestine
11	chr20:16553000-16554400	Active TSS	Right Atrium	heart
12	chr20:16553000-16554400	Active TSS	Hela-S3	cervix
13	chr20:16553000-16554400	Active TSS	NHDF-Ad	bronchial
14	chr20:16553000-16554600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr20:16553000-16554600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr20:16553000-16554800	Active TSS	Psoas Muscle	Psoas
17	chr20:16553000-16556400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr20:16553000-16556400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr20:16553000-16557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr20:16553200-16554400	Active TSS	Fetal Kidney	kidney
21	chr20:16553200-16554600	Active TSS	HSMMtube	muscle
22	chr20:16553200-16554600	Active TSS	NHLF	lung
23	chr20:16553200-16554800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr20:16553200-16554800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr20:16553200-16555000	Active TSS	Brain Substantia Nigra	brain
26	chr20:16553200-16555000	Active TSS	GM12878-XiMat	blood
27	chr20:16553200-16555400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:16553200-16555800	Active TSS	HSMM	muscle
29	chr20:16553200-16556000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:16553200-16556200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr20:16553200-16556400	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr20:16553200-16556400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr20:16553200-16556600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr20:16553400-16554400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr20:16553400-16554400	Active TSS	Aorta	Aorta
36	chr20:16553400-16554400	Active TSS	Brain Germinal Matrix	brain
37	chr20:16553400-16554400	Active TSS	Esophagus	oesophagus
38	chr20:16553400-16554400	Active TSS	Left Ventricle	heart
39	chr20:16553400-16554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr20:16553400-16554600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr20:16553400-16554600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr20:16553400-16554600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:16553400-16554600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr20:16553400-16554600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr20:16553400-16554600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr20:16553400-16554600	Active TSS	Lung	lung
47	chr20:16553400-16554600	Active TSS	Placenta Amnion	Placenta Amnion
48	chr20:16553400-16554600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr20:16553400-16554600	Active TSS	Small Intestine	intestine
50	chr20:16553400-16554800	Active TSS	H1 Cell Line	embryonic stem cell

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