Variant report

Variant	rs6080303
Chromosome Location	chr20:16554546-16554547
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	POLR2A	chr20:16554519-16554551	Hela-S3	cervix:	n/a	n/a
2	BCL3	chr20:16553929-16554683	A549	lung:	n/a	chr20:16554025-16554034 chr20:16554162-16554175 chr20:16554154-16554167 chr20:16554144-16554157 chr20:16554026-16554039
3	MYBL2	chr20:16553684-16554658	HepG2	liver:	n/a	n/a
4	MBD4	chr20:16553882-16554680	HepG2	liver:	n/a	n/a
5	POLR2A	chr20:16553647-16554576	SK-N-MC	brain:	n/a	n/a
6	TCF12	chr20:16553424-16554825	A549	lung:	n/a	chr20:16553802-16553812
7	TEAD4	chr20:16553989-16554725	HepG2	liver:	n/a	n/a
8	TBP	chr20:16553921-16554556	HepG2	liver:	n/a	n/a
9	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
10	ELF1	chr20:16553833-16554576	HepG2	liver:	n/a	chr20:16554138-16554150
11	USF1	chr20:16553885-16554584	H1-hESC	embryonic stem cell:	n/a	chr20:16554102-16554118
12	POLR2A	chr20:16553634-16554620	Hela-S3	cervix:	n/a	n/a
13	MAX	chr20:16553470-16554700	HepG2	liver:	n/a	n/a
14	EP300	chr20:16553837-16554584	A549	lung:	n/a	chr20:16554141-16554157 chr20:16554138-16554154
15	KAP1	chr20:16554150-16554640	U2OS	brain:	n/a	chr20:16554505-16554513
16	MAX	chr20:16553810-16554678	ECC-1	luminal epithelium:	n/a	n/a
17	CHD2	chr20:16553573-16554557	Hela-S3	cervix:	n/a	chr20:16554001-16554011
18	MYC	chr20:16553574-16554591	K562	blood:	n/a	n/a
19	ZNF384	chr20:16554103-16554674	GM12878	blood:	n/a	n/a
20	RCOR1	chr20:16553989-16554612	Hela-S3	cervix:	n/a	n/a
21	NFIC	chr20:16553779-16554616	HepG2	liver:	n/a	n/a
22	HDAC2	chr20:16553727-16554640	HepG2	liver:	n/a	n/a
23	SP1	chr20:16553839-16554555	GM12878	blood:	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
24	MYBL2	chr20:16553760-16554628	HepG2	liver:	n/a	n/a
25	USF1	chr20:16553902-16554658	ECC-1	luminal epithelium:	n/a	chr20:16554102-16554118
26	NRF1	chr20:16553818-16554648	SK-N-SH	brain:	n/a	chr20:16554087-16554101
27	USF2	chr20:16554023-16554559	GM12878	blood:	n/a	chr20:16554102-16554118 chr20:16554361-16554372
28	MYC	chr20:16553883-16554623	K562	blood:	n/a	n/a
29	ZNF143	chr20:16554075-16554635	Hela-S3	cervix:	n/a	chr20:16554166-16554184 chr20:16554145-16554155
30	MAX	chr20:16553497-16554727	A549	lung:	n/a	n/a
31	MBD4	chr20:16553913-16554717	HepG2	liver:	n/a	n/a
32	MYC	chr20:16553996-16554580	NB4	blood:	n/a	n/a
33	POLR2A	chr20:16553901-16554594	HCT-116	colon:	n/a	n/a
34	MAX	chr20:16553410-16554817	A549	lung:	n/a	n/a
35	USF1	chr20:16553905-16554655	A549	lung:	n/a	chr20:16554102-16554118
36	MAX	chr20:16553279-16554784	HepG2	liver:	n/a	chr20:16553313-16553320
37	POLR2A	chr20:16553765-16554615	HCT-116	colon:	n/a	n/a
38	ZNF143	chr20:16553938-16554630	K562	blood:	n/a	chr20:16554166-16554184 chr20:16554145-16554155
39	BHLHE40	chr20:16553623-16554561	HepG2	liver:	n/a	chr20:16554102-16554118
40	SP1	chr20:16553721-16554740	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
41	EGR1	chr20:16553673-16554562	HCT-116	colon:	n/a	chr20:16554021-16554031 chr20:16554140-16554150 chr20:16554021-16554034 chr20:16553827-16553840 chr20:16554022-16554031 chr20:16554003-16554017 chr20:16554006-16554019 chr20:16554018-16554032
42	USF1	chr20:16553873-16554590	SK-N-SH	brain:	n/a	chr20:16554102-16554118
43	YY1	chr20:16553965-16554560	A549	lung:	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
44	ZMIZ1	chr20:16553908-16554548	K562	blood:	n/a	n/a
45	TBP	chr20:16553877-16554553	K562	blood:	n/a	n/a
46	POLR2A	chr20:16553780-16554642	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr20:16553645-16554589	GM12878	blood:	n/a	chr20:16554001-16554011
48	TCF7L2	chr20:16554004-16554587	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr20:16553735-16554622	HepG2	liver:	n/a	n/a
50	HCFC1	chr20:16553775-16554728	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:16554531-16554581	HepG2	liver:	n/a
2	chr20:16554531-16554581	CMK	blood:	n/a
3	chr20:16554531-16554581	H1-hESC	embryonic stem cell:	embryo
4	chr20:16554531-16554581	AG04449	skin:	fetal
5	chr20:16554531-16554581	Caco-2	colon:	n/a
6	chr20:16554531-16554581	GM12892	blood:	n/a
7	chr20:16554531-16554581	AoSMC	blood vessel:	n/a
8	chr20:16554531-16554581	NHBE	bronchial:	n/a
9	chr20:16554531-16554581	SK-N-SH	brain:	n/a
10	chr20:16554531-16554581	HNPCEpiC	eye:	n/a
11	chr20:16554531-16554581	BJ	skin:	n/a
12	chr20:16554531-16554581	ProgFib	skin:	n/a
13	chr20:16554531-16554581	PrEC	prostate:	n/a
14	chr20:16554531-16554581	T-47D	breast:	n/a
15	chr20:16554531-16554581	HIPEpiC	eye:	n/a
16	chr20:16554531-16554581	HMEC	breast:	n/a
17	chr20:16554531-16554581	SK-N-MC	brain:	n/a
18	chr20:16554531-16554581	ECC-1	luminal epithelium:	n/a
19	chr20:16554531-16554581	BE2_C	brain:	n/a
20	chr20:16554531-16554581	IMR90	lung:	fetal
21	chr20:16554531-16554581	PANC-1	pancreas:	n/a
22	chr20:16554531-16554581	PFSK-1	brain:	n/a
23	chr20:16554531-16554581	NB4	blood:	n/a
24	chr20:16554531-16554581	HCF	heart:	n/a
25	chr20:16554531-16554581	MCF10A-Er-Src	breast:	n/a
26	chr20:16554531-16554581	HRE	kidney:	n/a
27	chr20:16554531-16554581	Jurkat	blood:	n/a
28	chr20:16554531-16554581	AG09319	gingival:	n/a
29	chr20:16554531-16554581	U87	brain:	n/a
30	chr20:16554531-16554581	AG09309	skin:	n/a
31	chr20:16554531-16554581	AG10803	skin:	n/a
32	chr20:16554531-16554581	A549	lung:	n/a
33	chr20:16554531-16554581	GM12878	blood:	n/a
34	chr20:16554531-16554581	RPTEC	kidney:	n/a
35	chr20:16554531-16554581	HRCEpiC	kidney:	n/a
36	chr20:16554531-16554581	HCM	heart:	n/a
37	chr20:16554531-16554581	HEK293	kidney:	embryo
38	chr20:16554531-16554581	NT2-D1	testis:	n/a
39	chr20:16554531-16554581	GM19239	blood:	n/a
40	chr20:16554531-16554581	ovcar-3	ovarian:	n/a
41	chr20:16554531-16554581	HRPEpiC	eye:	n/a
42	chr20:16554531-16554581	HPAEpiC	pulmonary alveolar:	n/a
43	chr20:16554531-16554581	K562	blood:	n/a
44	chr20:16554531-16554581	HEEpiC	esophagus:	n/a
45	chr20:16554531-16554581	HCT-116	colon:	n/a
46	chr20:16554531-16554581	SAEC	small airway:	n/a
47	chr20:16554531-16554581	Hela-S3	cervix:	n/a
48	chr20:16554531-16554581	HL-60	blood:	n/a
49	chr20:16554531-16554581	HUVEC	blood vessel:	n/a
50	chr20:16554531-16554581	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:16554484..16557263-chr20:16559352..16563570,6	K562	blood:
2	chr20:16549901..16551714-chr20:16554248..16557125,2	MCF-7	breast:

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

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4813232	0.82[JPT][hapmap]
rs4814513	0.85[ASN][1000 genomes]
rs4814516	0.87[ASN][1000 genomes]
rs6075075	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6075081	0.87[ASN][1000 genomes]
rs6080312	0.95[CHB][hapmap];0.97[CHD][hapmap];0.94[JPT][hapmap];0.83[TSI][hapmap];0.89[ASN][1000 genomes]
rs6080315	0.87[ASN][1000 genomes]
rs6111200	0.87[ASN][1000 genomes]
rs6135800	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945239	0.82[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6080303	KIF16B	cis	lymphoblastoid	seeQTL
rs6080303	KIF16B	cis	cerebellum	SCAN
rs6080303	C20orf23	Cis_1M	lymphoblastoid	RTeQTL

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	chr20:16553000-16554600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr20:16553000-16554600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:16553000-16554800	Active TSS	Psoas Muscle	Psoas
12	chr20:16553000-16556400	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr20:16553000-16556400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr20:16553000-16557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr20:16553200-16554600	Active TSS	HSMMtube	muscle
16	chr20:16553200-16554600	Active TSS	NHLF	lung
17	chr20:16553200-16554800	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr20:16553200-16554800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr20:16553200-16555000	Active TSS	Brain Substantia Nigra	brain
20	chr20:16553200-16555000	Active TSS	GM12878-XiMat	blood
21	chr20:16553200-16555400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr20:16553200-16555800	Active TSS	HSMM	muscle
23	chr20:16553200-16556000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr20:16553200-16556200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr20:16553200-16556400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr20:16553200-16556400	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr20:16553200-16556600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr20:16553400-16554600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:16553400-16554600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr20:16553400-16554600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:16553400-16554600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr20:16553400-16554600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr20:16553400-16554600	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr20:16553400-16554600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr20:16553400-16554600	Active TSS	Lung	lung
36	chr20:16553400-16554600	Active TSS	Placenta Amnion	Placenta Amnion
37	chr20:16553400-16554600	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr20:16553400-16554600	Active TSS	Small Intestine	intestine
39	chr20:16553400-16554800	Active TSS	H1 Cell Line	embryonic stem cell
40	chr20:16553400-16555000	Active TSS	Pancreas	Pancrea
41	chr20:16553400-16556200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr20:16553400-16556400	Active TSS	H9 Cell Line	embryonic stem cell
43	chr20:16553600-16554600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr20:16553600-16554600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr20:16553600-16554600	Active TSS	Fetal Brain Female	brain
46	chr20:16553600-16554600	Flanking Active TSS	Fetal Thymus	thymus
47	chr20:16553600-16555000	Active TSS	Brain Anterior Caudate	brain
48	chr20:16553600-16555000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr20:16553600-16555000	Active TSS	Duodenum Mucosa	Duodenum
50	chr20:16553600-16555000	Active TSS	Duodenum Smooth Muscle	Duodenum

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