Variant report

Variant	rs6105631
Chromosome Location	chr20:16555620-16555621
allele	C/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	NRF1	chr20:16555380-16555772	H1-hESC	embryonic stem cell:	n/a	chr20:16555582-16555593 chr20:16555582-16555596 chr20:16555582-16555593
2	EBF1	chr20:16555424-16555796	GM12878	blood:	n/a	n/a
3	CTCF	chr20:16555520-16555670	HUVEC	blood vessel:	n/a	chr20:16555525-16555543
4	MAX	chr20:16555327-16556114	H1-hESC	embryonic stem cell:	n/a	chr20:16555920-16555927 chr20:16555918-16555928
5	FOSL2	chr20:16555224-16555884	A549	lung:	n/a	n/a
6	NR3C1	chr20:16555404-16555876	A549	lung:	n/a	chr20:16555690-16555707
7	SIN3AK20	chr20:16555450-16556051	SK-N-SH	brain:	n/a	n/a
8	RCOR1	chr20:16555268-16556030	HepG2	liver:	n/a	n/a
9	MYC	chr20:16555497-16555888	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr20:16554949-16556346	HepG2	liver:	n/a	n/a
11	POLR2A	chr20:16555492-16555930	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr20:16555201-16556115	PANC-1	pancreas:	n/a	n/a
13	MAFF	chr20:16555341-16555980	HepG2	liver:	n/a	n/a
14	YY1	chr20:16555368-16555707	GM12878	blood:	n/a	chr20:16555652-16555663
15	POLR2A	chr20:16555429-16555853	HepG2	liver:	n/a	n/a
16	E2F6	chr20:16555479-16555838	K562	blood:	n/a	n/a
17	RFX5	chr20:16555383-16555712	H1-hESC	embryonic stem cell:	n/a	n/a
18	BHLHE40	chr20:16555255-16555945	K562	blood:	n/a	n/a
19	NR3C1	chr20:16555515-16555783	ECC-1	luminal epithelium:	n/a	chr20:16555690-16555707
20	ZNF143	chr20:16555445-16555771	GM12878	blood:	n/a	n/a
21	MYC	chr20:16555474-16556074	MCF10A-Er-Src	breast:	n/a	chr20:16555920-16555927 chr20:16555918-16555928
22	TAF1	chr20:16555320-16555853	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr20:16555382-16555769	ECC-1	luminal epithelium:	n/a	chr20:16555652-16555663
24	SIN3A	chr20:16555423-16555967	GM12878	blood:	n/a	n/a
25	HCFC1	chr20:16555379-16555886	K562	blood:	n/a	n/a
26	YY1	chr20:16555390-16555712	GM12891	blood:	n/a	chr20:16555652-16555663
27	MYC	chr20:16555335-16555816	H1-hESC	embryonic stem cell:	n/a	n/a
28	KAP1	chr20:16555136-16556386	U2OS	brain:	n/a	n/a
29	MAX	chr20:16555358-16556124	SK-N-SH	brain:	n/a	chr20:16555920-16555927 chr20:16555918-16555928
30	NR3C1	chr20:16555445-16555896	A549	lung:	n/a	chr20:16555690-16555707
31	MAX	chr20:16555303-16556175	K562	blood:	n/a	chr20:16555920-16555927 chr20:16555918-16555928
32	TAF1	chr20:16555413-16555884	HepG2	liver:	n/a	n/a
33	CEBPD	chr20:16555201-16555859	HepG2	liver:	n/a	n/a
34	SRF	chr20:16555341-16556001	ECC-1	luminal epithelium:	n/a	chr20:16555666-16555680 chr20:16555671-16555682 chr20:16555664-16555681 chr20:16555669-16555682 chr20:16555671-16555680 chr20:16555669-16555682 chr20:16555668-16555682 chr20:16555666-16555684 chr20:16555670-16555681 chr20:16555668-16555683
35	SP1	chr20:16555243-16555841	H1-hESC	embryonic stem cell:	n/a	chr20:16555656-16555668 chr20:16555656-16555668 chr20:16555658-16555667 chr20:16555657-16555666
36	TCF7L2	chr20:16555063-16555913	HCT-116	colon:	n/a	n/a
37	EP300	chr20:16555471-16556098	HepG2	liver:	n/a	n/a
38	RUNX3	chr20:16555377-16555716	GM12878	blood:	n/a	n/a
39	EP300	chr20:16555328-16556355	K562	blood:	n/a	n/a
40	SP1	chr20:16555290-16555784	H1-hESC	embryonic stem cell:	n/a	chr20:16555656-16555668 chr20:16555656-16555668 chr20:16555658-16555667 chr20:16555657-16555666
41	SP1	chr20:16555246-16555915	HepG2	liver:	n/a	chr20:16555656-16555668 chr20:16555656-16555668 chr20:16555658-16555667 chr20:16555657-16555666
42	POLR2A	chr20:16555206-16556466	Raji	blood:	n/a	n/a
43	CTCF	chr20:16555520-16555670	HCPEpiC	choroid plexus:	n/a	chr20:16555525-16555543
44	SRF	chr20:16555296-16555933	ECC-1	luminal epithelium:	n/a	chr20:16555666-16555680 chr20:16555671-16555682 chr20:16555664-16555681 chr20:16555669-16555682 chr20:16555671-16555680 chr20:16555669-16555682 chr20:16555668-16555682 chr20:16555666-16555684 chr20:16555670-16555681 chr20:16555668-16555683
45	MAX	chr20:16554937-16556356	A549	lung:	n/a	chr20:16555920-16555927 chr20:16555918-16555928
46	JUND	chr20:16555193-16555854	K562	blood:	n/a	n/a
47	JUND	chr20:16555295-16555878	HepG2	liver:	n/a	n/a
48	JUND	chr20:16555322-16555845	A549	lung:	n/a	n/a
49	TCF12	chr20:16554999-16556182	A549	lung:	n/a	chr20:16555434-16555444
50	POLR2A	chr20:16555055-16556050	HepG2	liver:	n/a	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

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1007144	0.86[AMR][1000 genomes]
rs13042615	0.88[EUR][1000 genomes]
rs13044683	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2179905	0.96[EUR][1000 genomes]
rs2328045	0.98[EUR][1000 genomes]
rs34548254	0.98[EUR][1000 genomes]
rs34678561	0.96[EUR][1000 genomes]
rs35610860	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4813225	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55776240	0.98[EUR][1000 genomes]
rs6034535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6034539	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6044121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6044124	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6044128	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6044141	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6044146	0.95[EUR][1000 genomes]
rs6111190	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6111195	0.96[EUR][1000 genomes]
rs6514692	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6514693	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs926772	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs926773	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs997972	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6105631	KIF16B	cis	Whole Blood	GTEx
rs6105631	KIF16B	cis	Muscle Skeletal	GTEx
rs6105631	C20orf23	Cis_1M	lymphoblastoid	RTeQTL
rs6105631	KIF16B	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16552200-16556600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr20:16552800-16556400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr20:16552800-16556400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr20:16553000-16556400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr20:16553000-16556400	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr20:16553000-16557200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr20:16553200-16555800	Active TSS	HSMM	muscle
8	chr20:16553200-16556000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr20:16553200-16556200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr20:16553200-16556400	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr20:16553200-16556400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr20:16553200-16556600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:16553400-16556200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr20:16553400-16556400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr20:16553600-16556200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:16553600-16556600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr20:16553800-16556000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:16554600-16555800	Enhancers	Fetal Brain Male	brain
19	chr20:16554600-16555800	Active TSS	Fetal Heart	heart
20	chr20:16554600-16555800	Active TSS	NHEK	skin
21	chr20:16554600-16556200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr20:16554600-16556200	Active TSS	Aorta	Aorta
23	chr20:16554600-16556400	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr20:16554600-16556400	Active TSS	Fetal Kidney	kidney
25	chr20:16554600-16556400	Enhancers	Spleen	Spleen
26	chr20:16554800-16555800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr20:16554800-16556200	Active TSS	Colon Smooth Muscle	Colon
28	chr20:16555000-16556200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr20:16555000-16556200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr20:16555000-16556400	Flanking Active TSS	Liver	Liver
31	chr20:16555000-16556400	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr20:16555000-16556400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr20:16555000-16556400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr20:16555000-16556400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr20:16555000-16556600	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr20:16555200-16555800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr20:16555200-16555800	Flanking Active TSS	Fetal Muscle Trunk	muscle
38	chr20:16555200-16556200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr20:16555200-16556200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:16555200-16556200	Active TSS	Right Atrium	heart
41	chr20:16555200-16556400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr20:16555200-16556400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr20:16555200-16556400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr20:16555200-16556400	Flanking Active TSS	HUVEC	blood vessel
45	chr20:16555200-16556400	Flanking Active TSS	NHLF	lung
46	chr20:16555200-16556600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr20:16555200-16556600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr20:16555400-16555800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr20:16555400-16555800	Flanking Active TSS	Fetal Stomach	stomach
50	chr20:16555400-16555800	Flanking Active TSS	Fetal Thymus	thymus

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