Variant report

Variant	rs761723
Chromosome Location	chr20:23330720-23330721
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	ATF2	chr20:23330387-23331151	GM12878	blood:	n/a	n/a
2	HDAC2	chr20:23330549-23331617	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZNF143	chr20:23330418-23331523	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr20:23330364-23332519	GM12891	blood:	n/a	n/a
5	TBP	chr20:23330477-23331617	HepG2	liver:	n/a	n/a
6	HCFC1	chr20:23330525-23331989	K562	blood:	n/a	n/a
7	TAF1	chr20:23330592-23332129	HepG2	liver:	n/a	n/a
8	USF1	chr20:23330645-23331546	SK-N-SH	brain:	n/a	chr20:23330993-23331009 chr20:23330982-23330998
9	YY1	chr20:23330629-23331863	A549	lung:	n/a	chr20:23330899-23330913 chr20:23331404-23331418 chr20:23331410-23331419 chr20:23330733-23330742 chr20:23331661-23331675
10	TAF1	chr20:23330571-23332171	ECC-1	luminal epithelium:	n/a	n/a
11	TBP	chr20:23330395-23331585	GM12878	blood:	n/a	n/a
12	E2F6	chr20:23330653-23332176	K562	blood:	n/a	chr20:23331411-23331421 chr20:23331453-23331465 chr20:23331943-23331952 chr20:23330736-23330745
13	MAZ	chr20:23330450-23331607	HepG2	liver:	n/a	chr20:23330889-23330905 chr20:23330889-23330896 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896
14	MAX	chr20:23330337-23332285	Hela-S3	cervix:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
15	POLR2A	chr20:23330296-23332340	HUVEC	blood vessel:	n/a	n/a
16	MAX	chr20:23330413-23332317	NB4	blood:	n/a	chr20:23331798-23331809 chr20:23330889-23330905 chr20:23331800-23331809 chr20:23331798-23331808 chr20:23330889-23330896 chr20:23331797-23331812 chr20:23330744-23330753 chr20:23330734-23330744 chr20:23330887-23330896 chr20:23331797-23331810 chr20:23331799-23331809
17	NFIC	chr20:23330701-23331437	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr20:23330384-23331676	HUVEC	blood vessel:	n/a	n/a
19	YY1	chr20:23330602-23331909	GM12878	blood:	n/a	chr20:23330899-23330913 chr20:23331404-23331418 chr20:23331410-23331419 chr20:23330733-23330742 chr20:23331661-23331675
20	POLR2A	chr20:23330365-23331754	Hela-S3	cervix:	n/a	n/a
21	TBL1XR1	chr20:23330463-23331205	K562	blood:	n/a	n/a
22	ZBTB33	chr20:23330717-23331534	A549	lung:	n/a	n/a
23	POLR2A	chr20:23330622-23332092	Gliobla	brain:	n/a	n/a
24	POLR2A	chr20:23330464-23331627	HepG2	liver:	n/a	n/a
25	MTA3	chr20:23330335-23332333	GM12878	blood:	n/a	n/a
26	PML	chr20:23330519-23331590	GM12878	blood:	n/a	n/a
27	GABPA	chr20:23330603-23331999	K562	blood:	n/a	chr20:23331062-23331071
28	GABPA	chr20:23330642-23332267	A549	lung:	n/a	chr20:23331062-23331071
29	ELF1	chr20:23330451-23332103	MCF-7	breast:	n/a	chr20:23331411-23331423 chr20:23331305-23331314 chr20:23330645-23330658 chr20:23331487-23331499
30	JUND	chr20:23330516-23331992	A549	lung:	n/a	chr20:23330737-23330746
31	ETS1	chr20:23330527-23331575	A549	lung:	n/a	chr20:23330733-23330744 chr20:23330808-23330823 chr20:23330739-23330750 chr20:23331352-23331361
32	POLR2A	chr20:23330302-23332250	ECC-1	luminal epithelium:	n/a	n/a
33	BACH1	chr20:23330305-23332189	H1-hESC	embryonic stem cell:	n/a	n/a
34	SIN3AK20	chr20:23330524-23330721	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr20:23330594-23332195	MCF-7	breast:	n/a	n/a
36	MEF2A	chr20:23330678-23331534	GM12878	blood:	n/a	n/a
37	POLR2A	chr20:23329986-23332360	Raji	blood:	n/a	n/a
38	POLR2A	chr20:23330598-23332181	MCF-7	breast:	n/a	n/a
39	POLR2A	chr20:23330408-23331574	HCT-116	colon:	n/a	n/a
40	TEAD4	chr20:23330491-23331652	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr20:23330470-23332390	HepG2	liver:	n/a	n/a
42	ELF1	chr20:23330362-23331706	MCF-7	breast:	n/a	chr20:23331411-23331423 chr20:23331305-23331314 chr20:23330645-23330658 chr20:23331487-23331499
43	RAD21	chr20:23330417-23330729	HepG2	liver:	n/a	chr20:23330477-23330496
44	IRF1	chr20:23330571-23331583	K562	blood:	n/a	chr20:23331294-23331305 chr20:23331292-23331306
45	RFX5	chr20:23330564-23331553	HepG2	liver:	n/a	n/a
46	TAF1	chr20:23330711-23331578	K562	blood:	n/a	n/a
47	E2F6	chr20:23330610-23331424	H1-hESC	embryonic stem cell:	n/a	chr20:23331411-23331421 chr20:23330736-23330745
48	POLR2A	chr20:23330489-23332205	HepG2	liver:	n/a	n/a
49	EGR1	chr20:23330586-23330903	GM12878	blood:	n/a	chr20:23330731-23330744 chr20:23330768-23330782 chr20:23330735-23330745 chr20:23330730-23330744 chr20:23330730-23330745 chr20:23330750-23330764 chr20:23330731-23330744 chr20:23330732-23330743 chr20:23330731-23330744 chr20:23330731-23330744 chr20:23330732-23330741 chr20:23330753-23330766
50	POLR2A	chr20:23330429-23331612	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:23330412..23330928-chr20:23426987..23427635,2	MCF-7	breast:
2	chr20:23330561..23331162-chr3:137906148..137906729,2	Hela-S3	cervix:
3	chr20:23187473..23190139-chr20:23328538..23331366,2	MCF-7	breast:
4	chr12:122502015..122502839-chr20:23330558..23331073,2	NB4	blood:
5	chr20:23330052..23330922-chr20:23586934..23587533,2	MCF-7	breast:
6	chr2:179541157..179541657-chr20:23330512..23331015,2	Hela-S3	cervix:
7	chr20:23328647..23330996-chr20:23399236..23401652,2	K562	blood:
8	chr10:6244548..6245207-chr20:23330568..23331191,2	HCT-116	colon:
9	chr20:23321273..23323325-chr20:23328933..23330875,2	K562	blood:
10	chr20:23022684..23024263-chr20:23328966..23331361,2	MCF-7	breast:
11	chr20:23112159..23115128-chr20:23328465..23330957,2	K562	blood:
12	chr20:23029084..23031719-chr20:23329992..23332006,2	K562	blood:

Variant related genes	Relation type
NXT1	TF binding region
ENSG00000114098	Chromatin interaction
ENSG00000170525	Chromatin interaction
ENSG00000213994	Chromatin interaction
ENSG00000233746	Chromatin interaction
ENSG00000178726	Chromatin interaction
ENSG00000256546	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1003417	0.81[CEU][hapmap]
rs1016628	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12349	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2024746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180139	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2236023	0.86[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2243448	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2253834	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2281431	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2295239	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2424527	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2424533	0.81[CEU][hapmap]
rs2424538	0.81[CEU][hapmap]
rs2424542	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424543	0.81[CEU][hapmap]
rs2424547	0.81[CEU][hapmap]
rs2424553	0.81[CEU][hapmap]
rs2424555	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4142246	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4815198	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048760	0.96[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048779	1.00[CEU][hapmap];0.86[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6048781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048784	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6076055	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6076065	0.81[CEU][hapmap]
rs6083106	0.81[CEU][hapmap]
rs6083114	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137933	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs999068	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs999072	0.81[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs761723	NAPB	cis	Artery Tibial	GTEx
rs761723	NAPB	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23327000-23330800	Weak transcription	Spleen	Spleen
2	chr20:23329800-23330800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr20:23329800-23331200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:23329800-23331200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr20:23329800-23333600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr20:23330000-23330800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr20:23330000-23330800	Flanking Active TSS	Fetal Brain Male	brain
8	chr20:23330000-23331000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr20:23330000-23331000	Flanking Bivalent TSS/Enh	HepG2	liver
10	chr20:23330000-23331600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr20:23330000-23331800	Active TSS	Duodenum Mucosa	Duodenum
12	chr20:23330000-23331800	Active TSS	Fetal Muscle Trunk	muscle
13	chr20:23330000-23332000	Active TSS	Rectal Smooth Muscle	rectum
14	chr20:23330000-23332000	Active TSS	Right Atrium	heart
15	chr20:23330000-23332400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr20:23330000-23332600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr20:23330000-23332600	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr20:23330000-23332800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr20:23330200-23330800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr20:23330200-23330800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr20:23330200-23330800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr20:23330200-23331000	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr20:23330200-23331200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr20:23330200-23331200	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr20:23330200-23331600	Active TSS	Colonic Mucosa	Colon
26	chr20:23330200-23331800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr20:23330200-23331800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr20:23330200-23331800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr20:23330200-23331800	Active TSS	Stomach Smooth Muscle	stomach
30	chr20:23330200-23332200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr20:23330200-23332200	Active TSS	Aorta	Aorta
32	chr20:23330200-23332200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr20:23330200-23332200	Active TSS	Fetal Intestine Large	intestine
34	chr20:23330200-23332200	Active TSS	Fetal Intestine Small	intestine
35	chr20:23330200-23332200	Active TSS	Fetal Kidney	kidney
36	chr20:23330200-23332200	Active TSS	Right Ventricle	heart
37	chr20:23330200-23332200	Active TSS	Small Intestine	intestine
38	chr20:23330200-23332200	Active TSS	NHLF	lung
39	chr20:23330200-23332400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr20:23330200-23332400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr20:23330200-23332400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr20:23330200-23332400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr20:23330200-23332400	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr20:23330200-23332400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr20:23330200-23332400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr20:23330200-23332400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr20:23330200-23332400	Active TSS	Psoas Muscle	Psoas
48	chr20:23330200-23332400	Active TSS	HMEC	breast
49	chr20:23330200-23332400	Active TSS	HSMM	muscle
50	chr20:23330200-23332400	Active TSS	HSMMtube	muscle

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