Variant report

Variant	rs17693410
Chromosome Location	chr14:39737215-39737216
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	EP300	chr14:39735032-39737269	HepG2	liver:	n/a	chr14:39735896-39735905 chr14:39737034-39737044 chr14:39736087-39736096 chr14:39735369-39735378 chr14:39736103-39736119
2	STAT3	chr14:39737079-39737242	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr14:39736897-39737266	K562	blood:	n/a	n/a
4	MXI1	chr14:39735203-39737290	Hela-S3	cervix:	n/a	chr14:39736629-39736644 chr14:39737052-39737061 chr14:39737050-39737059
5	PML	chr14:39735367-39737281	GM12878	blood:	n/a	n/a
6	MXI1	chr14:39734950-39737526	GM12878	blood:	n/a	chr14:39736629-39736644 chr14:39737052-39737061 chr14:39737050-39737059
7	MAX	chr14:39735321-39737322	HepG2	liver:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
8	MAX	chr14:39735546-39737290	H1-hESC	embryonic stem cell:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
9	ARID3A	chr14:39735397-39737752	HepG2	liver:	n/a	n/a
10	CREB1	chr14:39735304-39737255	HepG2	liver:	n/a	n/a
11	ZEB1	chr14:39735145-39737397	HepG2	liver:	n/a	chr14:39735726-39735738
12	GTF2F1	chr14:39735010-39737329	Hela-S3	cervix:	n/a	n/a
13	MAX	chr14:39735397-39737303	MCF-7	breast:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
14	KAP1	chr14:39736127-39737337	HEK293	kidney:	n/a	n/a
15	FOXA2	chr14:39736101-39737215	HepG2	liver:	n/a	chr14:39737031-39737043
16	MAX	chr14:39735322-39737371	HCT-116	colon:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
17	TBP	chr14:39735063-39737219	K562	blood:	n/a	n/a
18	MAX	chr14:39735399-39737301	ECC-1	luminal epithelium:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
19	MBD4	chr14:39734960-39737590	HepG2	liver:	n/a	n/a
20	MYC	chr14:39735234-39737234	NB4	blood:	n/a	chr14:39737051-39737060 chr14:39735299-39735308 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
21	POLR2A	chr14:39734299-39737658	MCF10A-Er-Src	breast:	n/a	n/a
22	MAX	chr14:39735452-39737323	MCF-7	breast:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
23	POLR2A	chr14:39735379-39737296	HepG2	liver:	n/a	n/a
24	MAX	chr14:39735426-39737258	K562	blood:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
25	CHD2	chr14:39735242-39737219	Hela-S3	cervix:	n/a	chr14:39736859-39736869 chr14:39736513-39736523
26	NFIC	chr14:39734955-39737759	HepG2	liver:	n/a	n/a
27	MAX	chr14:39735706-39737227	K562	blood:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
28	POLR2A	chr14:39735518-39737286	HepG2	liver:	n/a	n/a
29	MAX	chr14:39736801-39737252	SK-N-SH	brain:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
30	BRCA1	chr14:39736114-39737275	Hela-S3	cervix:	n/a	n/a
31	KAP1	chr14:39736113-39737222	U2OS	brain:	n/a	n/a
32	MYBL2	chr14:39734846-39737218	HepG2	liver:	n/a	n/a
33	TBP	chr14:39734305-39737329	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr14:39734861-39737343	Hela-S3	cervix:	n/a	chr14:39735073-39735084 chr14:39735074-39735085
35	POLR2A	chr14:39735074-39737302	HepG2	liver:	n/a	n/a
36	E2F6	chr14:39736468-39737219	H1-hESC	embryonic stem cell:	n/a	chr14:39736655-39736662
37	CHD1	chr14:39735032-39737962	IMR90	lung:	n/a	chr14:39736859-39736869 chr14:39736513-39736523
38	MYC	chr14:39736335-39737312	H1-hESC	embryonic stem cell:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
39	MXI1	chr14:39736440-39737308	K562	blood:	n/a	chr14:39736629-39736644 chr14:39737052-39737061 chr14:39737050-39737059
40	E2F4	chr14:39737022-39737589	GM12878	blood:	n/a	n/a
41	POLR2A	chr14:39735022-39737305	GM12891	blood:	n/a	n/a
42	ZMIZ1	chr14:39736162-39737260	K562	blood:	n/a	n/a
43	HEY1	chr14:39735243-39737262	HepG2	liver:	n/a	chr14:39735856-39735871 chr14:39736856-39736871 chr14:39736097-39736112 chr14:39736342-39736357
44	MAX	chr14:39735221-39737248	NB4	blood:	n/a	chr14:39737051-39737060 chr14:39735299-39735308 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
45	FOXA1	chr14:39736849-39737271	T-47D	breast:	n/a	chr14:39737031-39737043
46	TEAD4	chr14:39734810-39738248	HepG2	liver:	n/a	n/a
47	SIN3A	chr14:39735566-39737300	H1-hESC	embryonic stem cell:	n/a	chr14:39736317-39736330 chr14:39736014-39736027 chr14:39736317-39736328
48	RFX5	chr14:39735357-39737334	Hela-S3	cervix:	n/a	chr14:39736627-39736644 chr14:39736628-39736643 chr14:39736628-39736643 chr14:39736628-39736643
49	MAX	chr14:39735345-39737336	ECC-1	luminal epithelium:	n/a	chr14:39737051-39737060 chr14:39737049-39737062 chr14:39737050-39737060 chr14:39737050-39737061 chr14:39737046-39737065 chr14:39737050-39737061 chr14:39737052-39737061 chr14:39737049-39737059
50	E2F6	chr14:39735341-39737225	A549	lung:	n/a	chr14:39735898-39735908 chr14:39736655-39736662 chr14:39736325-39736334 chr14:39736087-39736097

No.	Distal block	Cell Line	Cell type
1	chr14:39636108..39642775-chr14:39734196..39739360,12	MCF-7	breast:
2	chr14:39642546..39647225-chr14:39733415..39737853,13	MCF-7	breast:
3	chr14:39643730..39648156-chr14:39734640..39738499,10	MCF-7	breast:
4	chr14:39652053..39654773-chr14:39736732..39739387,2	K562	blood:
5	chr14:39734882..39737237-chr14:39899749..39901875,2	MCF-7	breast:
6	chr14:39736982..39739247-chr14:39739513..39742286,3	K562	blood:
7	chr14:39734713..39738415-chr14:39740999..39745819,7	MCF-7	breast:
8	chr14:39639668..39641561-chr14:39735977..39737875,2	K562	blood:
9	chr14:39647303..39649184-chr14:39736283..39738077,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258940	TF binding region
ENSG00000100941	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000165355	Chromatin interaction
ENSG00000150527	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10139612	0.81[CHB][hapmap]
rs10145517	0.81[JPT][hapmap]
rs10145518	0.81[CHB][hapmap];0.88[JPT][hapmap]
rs10149896	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10872918	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12881284	0.80[ASN][1000 genomes]
rs17109068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17109118	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2274397	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4393482	1.00[JPT][hapmap]
rs4899200	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs61398943	0.82[ASN][1000 genomes]
rs61998537	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61998549	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61998551	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998552	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998554	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61998555	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62000665	0.81[ASN][1000 genomes]
rs6571908	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6571909	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6571920	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs7141921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148572	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs715135	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7494635	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8017650	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8018486	0.84[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs8019758	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39734400-39737400	Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr14:39734400-39737600	Active TSS	Brain Anterior Caudate	brain
3	chr14:39734400-39737600	Active TSS	Brain Cingulate Gyrus	brain
4	chr14:39734400-39737600	Active TSS	Fetal Muscle Leg	muscle
5	chr14:39734400-39737600	Active TSS	Right Ventricle	heart
6	chr14:39734400-39737600	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr14:39734400-39737800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:39734400-39737800	Active TSS	Right Atrium	heart
9	chr14:39734400-39738000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:39734400-39738200	Active TSS	Aorta	Aorta
11	chr14:39734600-39737400	Active TSS	Brain Substantia Nigra	brain
12	chr14:39734600-39737600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:39734600-39737600	Active TSS	Brain Hippocampus Middle	brain
14	chr14:39734600-39738200	Active TSS	HSMMtube	muscle
15	chr14:39734600-39738800	Active TSS	Psoas Muscle	Psoas
16	chr14:39734800-39738200	Active TSS	Brain Angular Gyrus	brain
17	chr14:39735000-39737400	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr14:39735000-39737800	Active TSS	Colonic Mucosa	Colon
19	chr14:39735000-39738000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr14:39735200-39737400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:39735200-39737400	Active TSS	Thymus	Thymus
22	chr14:39735200-39737600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr14:39735200-39737800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr14:39735200-39737800	Active TSS	NHLF	lung
25	chr14:39735200-39738000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr14:39735200-39738000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:39735400-39737800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:39735400-39737800	Active TSS	Gastric	stomach
29	chr14:39735400-39737800	Active TSS	Lung	lung
30	chr14:39735400-39738000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:39735600-39737400	Active TSS	Duodenum Mucosa	Duodenum
32	chr14:39735600-39737400	Active TSS	NH-A	brain
33	chr14:39735600-39737600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:39735600-39737600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:39735600-39737600	Active TSS	Fetal Intestine Large	intestine
36	chr14:39735600-39737800	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr14:39735600-39737800	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr14:39735600-39737800	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr14:39735600-39737800	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr14:39735600-39737800	Active TSS	Stomach Mucosa	stomach
41	chr14:39735600-39738000	Active TSS	A549	lung
42	chr14:39735600-39738200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:39735600-39738200	Active TSS	Stomach Smooth Muscle	stomach
44	chr14:39735800-39737400	Active TSS	Primary B cells from peripheral blood	blood
45	chr14:39735800-39737400	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr14:39735800-39737400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr14:39735800-39737400	Active TSS	Fetal Intestine Small	intestine
48	chr14:39735800-39737400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:39735800-39737400	Active TSS	HUVEC	blood vessel
50	chr14:39735800-39737600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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