Variant report

Variant	rs17475333
Chromosome Location	chr14:70826458-70826459
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:561)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:561 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr14:70826222-70826692	HepG2	liver:	n/a	n/a
2	MAZ	chr14:70826178-70826649	Hela-S3	cervix:	n/a	n/a
3	PML	chr14:70826135-70826608	K562	blood:	n/a	n/a
4	TAF1	chr14:70825949-70826687	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr14:70825981-70826837	HUVEC	blood vessel:	n/a	n/a
6	E2F6	chr14:70826220-70826807	A549	lung:	n/a	chr14:70826562-70826571
7	PML	chr14:70826149-70826650	GM12878	blood:	n/a	n/a
8	YY1	chr14:70825988-70826727	HepG2	liver:	n/a	n/a
9	FOXA1	chr14:70826289-70826648	T-47D	breast:	n/a	n/a
10	TCF12	chr14:70826083-70826775	ECC-1	luminal epithelium:	n/a	n/a
11	POLR2A	chr14:70825813-70826744	GM18951	blood:	n/a	n/a
12	GABPA	chr14:70826097-70826704	K562	blood:	n/a	n/a
13	FOSL1	chr14:70826421-70826817	H1-hESC	embryonic stem cell:	n/a	n/a
14	WRNIP1	chr14:70825532-70826693	GM12878	blood:	n/a	n/a
15	ELF1	chr14:70825973-70826820	MCF-7	breast:	n/a	n/a
16	SIN3A	chr14:70825511-70826706	H1-hESC	embryonic stem cell:	n/a	n/a
17	EP300	chr14:70826205-70826696	H1-hESC	embryonic stem cell:	n/a	chr14:70826406-70826415 chr14:70826402-70826416
18	MAX	chr14:70826160-70826707	A549	lung:	n/a	n/a
19	CEBPB	chr14:70826315-70826614	GM12878	blood:	n/a	n/a
20	HCFC1	chr14:70825509-70827458	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr14:70825908-70826732	SK-N-MC	brain:	n/a	n/a
22	MBD4	chr14:70826148-70826763	HepG2	liver:	n/a	n/a
23	TCF12	chr14:70826340-70826632	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr14:70825942-70826775	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:70826025-70826812	H1-hESC	embryonic stem cell:	n/a	n/a
26	GABPA	chr14:70826077-70826722	Hela-S3	cervix:	n/a	n/a
27	PML	chr14:70825936-70826884	GM12878	blood:	n/a	n/a
28	USF1	chr14:70826251-70826632	H1-hESC	embryonic stem cell:	n/a	n/a
29	SIX5	chr14:70826340-70826647	K562	blood:	n/a	n/a
30	CREB1	chr14:70826121-70826775	HepG2	liver:	n/a	n/a
31	TAF1	chr14:70826150-70826635	HepG2	liver:	n/a	n/a
32	SRF	chr14:70826235-70826661	HepG2	liver:	n/a	n/a
33	GABPA	chr14:70825675-70827043	MCF-7	breast:	n/a	n/a
34	POLR2A	chr14:70826047-70826826	SK-N-SH	brain:	n/a	n/a
35	SRF	chr14:70826299-70826638	GM12878	blood:	n/a	n/a
36	SIN3A	chr14:70826101-70826653	GM12878	blood:	n/a	n/a
37	REST	chr14:70826185-70826497	Hela-S3	cervix:	n/a	n/a
38	GATA2	chr14:70826213-70826914	HUVEC	blood vessel:	n/a	chr14:70826404-70826414
39	JUND	chr14:70826307-70826662	HepG2	liver:	n/a	chr14:70826404-70826413
40	POLR2A	chr14:70825901-70826653	IMR90	lung:	n/a	n/a
41	SRF	chr14:70826034-70826783	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr14:70826071-70826798	GM12891	blood:	n/a	n/a
43	NR2F2	chr14:70826295-70826596	K562	blood:	n/a	n/a
44	YY1	chr14:70826324-70826761	K562	blood:	n/a	n/a
45	POLR2A	chr14:70826004-70826767	U87	brain:	n/a	n/a
46	ELK1	chr14:70826239-70826717	GM12878	blood:	n/a	n/a
47	NFIC	chr14:70825959-70826782	GM12878	blood:	n/a	n/a
48	REST	chr14:70826200-70826732	A549	lung:	n/a	n/a
49	CEBPB	chr14:70826257-70826710	A549	lung:	n/a	n/a
50	MAX	chr14:70825454-70826801	MCF-7	breast:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70826434-70826484	GM06990	blood:	n/a
2	chr14:70826455-70826505	HCT-116	colon:	n/a
3	chr14:70826434-70826484	Jurkat	blood:	n/a
4	chr14:70826434-70826484	BE2_C	brain:	n/a
5	chr14:70826455-70826505	GM12891	blood:	n/a
6	chr14:70826455-70826505	GM06990	blood:	n/a
7	chr14:70826455-70826505	AG04449	skin:	fetal
8	chr14:70826455-70826505	HNPCEpiC	eye:	n/a
9	chr14:70826434-70826484	HEK293	kidney:	embryo
10	chr14:70826455-70826505	Hepatocyte	liver:	n/a
11	chr14:70826455-70826505	BJ	skin:	n/a
12	chr14:70826434-70826484	Hepatocyte	liver:	n/a
13	chr14:70826434-70826484	K562	blood:	n/a
14	chr14:70826455-70826505	BE2_C	brain:	n/a
15	chr14:70826455-70826505	HCPEpiC	choroid plexus:	n/a
16	chr14:70826434-70826484	NHDF-neo	bronchial:	n/a
17	chr14:70826434-70826484	T-47D	breast:	n/a
18	chr14:70826455-70826505	AG09309	skin:	n/a
19	chr14:70826455-70826505	HUVEC	blood vessel:	n/a
20	chr14:70826455-70826505	SK-N-MC	brain:	n/a
21	chr14:70826434-70826484	AG09319	gingival:	n/a
22	chr14:70826455-70826505	ProgFib	skin:	n/a
23	chr14:70826455-70826505	HepG2	liver:	n/a
24	chr14:70826455-70826505	HIPEpiC	eye:	n/a
25	chr14:70826434-70826484	SK-N-SH	brain:	n/a
26	chr14:70826434-70826484	HRE	kidney:	n/a
27	chr14:70826455-70826505	T-47D	breast:	n/a
28	chr14:70826434-70826484	AoSMC	blood vessel:	n/a
29	chr14:70826434-70826484	H1-hESC	embryonic stem cell:	embryo
30	chr14:70826434-70826484	HAEpiC	amniotic membrane:	n/a
31	chr14:70826455-70826505	AG10803	skin:	n/a
32	chr14:70826455-70826505	AoSMC	blood vessel:	n/a
33	chr14:70826434-70826484	AG09309	skin:	n/a
34	chr14:70826434-70826484	MCF-7	breast:	n/a
35	chr14:70826434-70826484	HNPCEpiC	eye:	n/a
36	chr14:70826434-70826484	HUVEC	blood vessel:	n/a
37	chr14:70826434-70826484	AG04450	lung:	fetal
38	chr14:70826434-70826484	RPTEC	kidney:	n/a
39	chr14:70826434-70826484	PFSK-1	brain:	n/a
40	chr14:70826455-70826505	SAEC	small airway:	n/a
41	chr14:70826455-70826505	RPTEC	kidney:	n/a
42	chr14:70826434-70826484	HCF	heart:	n/a
43	chr14:70826455-70826505	MCF10A-Er-Src	breast:	n/a
44	chr14:70826434-70826484	HCPEpiC	choroid plexus:	n/a
45	chr14:70826455-70826505	ECC-1	luminal epithelium:	n/a
46	chr14:70826455-70826505	HRPEpiC	eye:	n/a
47	chr14:70826434-70826484	U87	brain:	n/a
48	chr14:70826434-70826484	HPAEpiC	pulmonary alveolar:	n/a
49	chr14:70826455-70826505	SK-N-SH_RA	brain:	n/a
50	chr14:70826455-70826505	U87	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70826031..70826820-chr15:31507572..31508481,2	Hela-S3	cervix:
2	chr14:50863177..50863840-chr14:70826123..70826629,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RNU2-51P	TF binding region
COX16	TF binding region
COX16	CpG island
RNU2-51P	CpG island
ENSG00000258857	Chromatin interaction
ENSG00000100490	Chromatin interaction
ENSG00000259448	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12879256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12879701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12880065	0.82[EUR][1000 genomes]
rs12885170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12888630	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12889575	0.85[EUR][1000 genomes]
rs12889618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12890852	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12891402	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12897297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12898006	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17566073	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566625	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566723	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17566814	0.90[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17566989	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34473038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34506335	0.82[EUR][1000 genomes]
rs34590849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34620351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34658788	0.97[EUR][1000 genomes]
rs34981619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35034872	0.85[EUR][1000 genomes]
rs35224988	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35543989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35547503	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35697534	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35997384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55812665	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs66495513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67417438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67434384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv902075	chr14:70612618-70919016	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17475333	COX16	cis	Muscle Skeletal	GTEx
rs17475333	RP11-718G2.3	cis	Muscle Skeletal	GTEx
rs17475333	COX16	cis	Heart Left Ventricle	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70824000-70827200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:70824400-70827000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr14:70824600-70827400	Active TSS	GM12878-XiMat	blood
4	chr14:70824800-70827000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:70824800-70827200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:70824800-70827200	Active TSS	Aorta	Aorta
7	chr14:70824800-70827200	Active TSS	Right Ventricle	heart
8	chr14:70824800-70827400	Active TSS	Stomach Smooth Muscle	stomach
9	chr14:70824800-70827600	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr14:70825000-70827000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr14:70825000-70827000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:70825000-70827000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:70825000-70827000	Active TSS	Psoas Muscle	Psoas
14	chr14:70825000-70827000	Active TSS	HMEC	breast
15	chr14:70825200-70826800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:70825200-70826800	Active TSS	K562	blood
17	chr14:70825200-70826800	Active TSS	NHLF	lung
18	chr14:70825200-70827000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr14:70825200-70827000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:70825200-70827000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr14:70825200-70827000	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:70825200-70827000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr14:70825200-70827000	Active TSS	Muscle Satellite Cultured Cells	--
24	chr14:70825200-70827000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:70825200-70827000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:70825200-70827000	Active TSS	Colonic Mucosa	Colon
27	chr14:70825200-70827000	Active TSS	Fetal Muscle Leg	muscle
28	chr14:70825200-70827000	Active TSS	Fetal Stomach	stomach
29	chr14:70825200-70827000	Active TSS	Ovary	ovary
30	chr14:70825200-70827000	Active TSS	A549	lung
31	chr14:70825200-70827200	Active TSS	Fetal Intestine Large	intestine
32	chr14:70825200-70827200	Active TSS	Fetal Kidney	kidney
33	chr14:70825200-70827200	Active TSS	Fetal Muscle Trunk	muscle
34	chr14:70825200-70827400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr14:70825200-70827400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr14:70825200-70827400	Active TSS	NHDF-Ad	bronchial
37	chr14:70825200-70827600	Active TSS	Right Atrium	heart
38	chr14:70825400-70826600	Active TSS	Gastric	stomach
39	chr14:70825400-70826800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr14:70825400-70826800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:70825400-70826800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:70825400-70826800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr14:70825400-70826800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr14:70825400-70826800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:70825400-70826800	Active TSS	Lung	lung
46	chr14:70825400-70827000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:70825400-70827000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr14:70825400-70827000	Active TSS	Esophagus	oesophagus
49	chr14:70825400-70827000	Active TSS	Placenta	Placenta
50	chr14:70825400-70827000	Active TSS	Left Ventricle	heart

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