Variant report

Variant	rs58432603
Chromosome Location	chr15:78799392-78799393
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	TCF12	chr15:78799196-78800541	A549	lung:	n/a	n/a
2	NFYB	chr15:78799374-78800339	Hela-S3	cervix:	n/a	chr15:78799861-78799875 chr15:78799661-78799676 chr15:78799664-78799679 chr15:78799666-78799676 chr15:78799861-78799874 chr15:78799863-78799873 chr15:78799861-78799876 chr15:78799861-78799876 chr15:78799860-78799872 chr15:78799664-78799679
3	HEY1	chr15:78799354-78800137	HepG2	liver:	n/a	chr15:78799901-78799916 chr15:78799945-78799960
4	POLR2A	chr15:78799186-78800459	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:78799221-78800317	SK-N-MC	brain:	n/a	n/a
6	BHLHE40	chr15:78799381-78799700	K562	blood:	n/a	n/a
7	E2F6	chr15:78799305-78800367	A549	lung:	n/a	chr15:78799972-78799979 chr15:78799666-78799675 chr15:78799972-78799979 chr15:78800314-78800324 chr15:78799863-78799872 chr15:78799972-78799979
8	EP300	chr15:78799381-78799628	HepG2	liver:	n/a	n/a
9	TAF1	chr15:78799311-78800246	A549	lung:	n/a	n/a
10	MAX	chr15:78799236-78800408	MCF-7	breast:	n/a	n/a
11	POLR2A	chr15:78799368-78800210	HEK293	kidney:	n/a	n/a
12	SRF	chr15:78799289-78800342	MCF-7	breast:	n/a	n/a
13	MYC	chr15:78799298-78800376	K562	blood:	n/a	n/a
14	MXI1	chr15:78799379-78800600	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:78799294-78800154	SK-N-SH	brain:	n/a	n/a
16	SIN3AK20	chr15:78799196-78800152	A549	lung:	n/a	n/a
17	MAZ	chr15:78799291-78799985	HepG2	liver:	n/a	n/a
18	MAFK	chr15:78799357-78799931	K562	blood:	n/a	n/a
19	JUND	chr15:78799225-78800064	A549	lung:	n/a	chr15:78799725-78799737 chr15:78799865-78799874 chr15:78799668-78799677
20	CCNT2	chr15:78799281-78800197	K562	blood:	n/a	n/a
21	PBX3	chr15:78799382-78800154	A549	lung:	n/a	chr15:78799667-78799676 chr15:78799864-78799873
22	SP1	chr15:78799313-78800561	A549	lung:	n/a	chr15:78799665-78799686 chr15:78799891-78799905 chr15:78799862-78799883 chr15:78799645-78799654 chr15:78799732-78799746
23	TBP	chr15:78799361-78800155	HepG2	liver:	n/a	n/a
24	PBX3	chr15:78799320-78800220	A549	lung:	n/a	chr15:78799667-78799676 chr15:78799864-78799873
25	MXI1	chr15:78798940-78800501	IMR90	lung:	n/a	n/a
26	KAP1	chr15:78799336-78800062	U2OS	brain:	n/a	n/a
27	SP1	chr15:78799263-78800449	A549	lung:	n/a	chr15:78799665-78799686 chr15:78799891-78799905 chr15:78799862-78799883 chr15:78799645-78799654 chr15:78799732-78799746
28	MAX	chr15:78799211-78800349	ECC-1	luminal epithelium:	n/a	n/a
29	MAX	chr15:78799295-78800666	MCF-7	breast:	n/a	n/a
30	MXI1	chr15:78799338-78800484	HepG2	liver:	n/a	n/a
31	BCL3	chr15:78799217-78800259	A549	lung:	n/a	chr15:78799561-78799569
32	SIN3AK20	chr15:78799178-78800603	MCF-7	breast:	n/a	n/a
33	POLR2A	chr15:78799258-78800108	PANC-1	pancreas:	n/a	n/a
34	TEAD4	chr15:78799288-78799721	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr15:78799312-78800392	H1-hESC	embryonic stem cell:	n/a	n/a
36	HDAC2	chr15:78799350-78799816	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr15:78799283-78800369	MCF-7	breast:	n/a	n/a
38	POLR2A	chr15:78799341-78800275	U87	brain:	n/a	n/a
39	MXI1	chr15:78799051-78800926	SK-N-SH	brain:	n/a	n/a
40	MAX	chr15:78799358-78800117	HepG2	liver:	n/a	n/a
41	PBX3	chr15:78799339-78800058	SK-N-SH	brain:	n/a	chr15:78799667-78799676 chr15:78799864-78799873
42	MAX	chr15:78799365-78800298	K562	blood:	n/a	n/a
43	MAX	chr15:78799113-78800573	A549	lung:	n/a	n/a
44	MAX	chr15:78799347-78800326	H1-hESC	embryonic stem cell:	n/a	n/a
45	SP1	chr15:78799375-78800066	HepG2	liver:	n/a	chr15:78799665-78799686 chr15:78799891-78799905 chr15:78799862-78799883 chr15:78799645-78799654 chr15:78799732-78799746
46	POLR2A	chr15:78799358-78800226	HepG2	liver:	n/a	n/a
47	RFX5	chr15:78799182-78800802	SK-N-SH	brain:	n/a	chr15:78799667-78799676 chr15:78799864-78799873
48	POLR2A	chr15:78799342-78800248	Hela-S3	cervix:	n/a	n/a
49	SIN3AK20	chr15:78799379-78799785	HepG2	liver:	n/a	n/a
50	SIN3AK20	chr15:78799283-78799699	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78798632..78802030-chr15:78802831..78805742,4	K562	blood:
2	chr15:78798632..78801641-chr15:78802047..78805742,4	K562	blood:
3	chr15:78797464..78804546-chr15:78829529..78835433,12	MCF-7	breast:
4	chr15:78799175..78801434-chr15:78856957..78860049,3	K562	blood:
5	chr15:78798809..78800718-chr15:78830322..78833228,2	K562	blood:
6	chr15:78729311..78731587-chr15:78798062..78799852,2	K562	blood:
7	chr15:78785786..78788600-chr15:78798276..78800163,3	K562	blood:
8	chr15:78798048..78801609-chr15:78828919..78833228,5	K562	blood:
9	chr15:78798844..78801827-chr15:78830907..78834394,5	MCF-7	breast:

Variant related genes	Relation type
HYKK	TF binding region
ENSG00000136381	Chromatin interaction
ENSG00000041357	Chromatin interaction
ENSG00000169684	Chromatin interaction
ENSG00000188266	Chromatin interaction
ENSG00000268838	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10450964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10450994	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10450995	1.00[EUR][1000 genomes]
rs10851904	1.00[EUR][1000 genomes]
rs10851905	1.00[EUR][1000 genomes]
rs11072773	1.00[EUR][1000 genomes]
rs11855783	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11856232	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11856283	1.00[EUR][1000 genomes]
rs11856900	1.00[EUR][1000 genomes]
rs16969842	1.00[EUR][1000 genomes]
rs16969845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17588	1.00[EUR][1000 genomes]
rs2656068	1.00[EUR][1000 genomes]
rs28820031	1.00[EUR][1000 genomes]
rs34990112	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4887040	1.00[EUR][1000 genomes]
rs4887044	1.00[EUR][1000 genomes]
rs55927929	1.00[EUR][1000 genomes]
rs56740585	1.00[EUR][1000 genomes]
rs56778876	1.00[EUR][1000 genomes]
rs59046470	1.00[EUR][1000 genomes]
rs59098354	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60507267	1.00[EUR][1000 genomes]
rs61208420	1.00[EUR][1000 genomes]
rs61695517	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73467242	1.00[EUR][1000 genomes]
rs73467244	1.00[EUR][1000 genomes]
rs73467262	1.00[EUR][1000 genomes]
rs73467265	1.00[EUR][1000 genomes]
rs73467279	1.00[EUR][1000 genomes]
rs74024421	1.00[EUR][1000 genomes]
rs9920382	1.00[EUR][1000 genomes]

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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	nsv94512	chr15:78794159-78801222	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
3	nsv1038816	chr15:78796434-78881087	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:78777000-78799400	Weak transcription	Gastric	stomach
3	chr15:78785600-78799400	Weak transcription	Spleen	Spleen
4	chr15:78787400-78799400	Weak transcription	Aorta	Aorta
5	chr15:78789000-78799400	Weak transcription	Small Intestine	intestine
6	chr15:78791200-78799400	Weak transcription	GM12878-XiMat	blood
7	chr15:78791200-78799800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:78791600-78799400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr15:78793600-78800000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr15:78794600-78799400	Weak transcription	Thymus	Thymus
11	chr15:78798600-78799400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:78798800-78799400	Enhancers	Fetal Brain Male	brain
13	chr15:78798800-78799400	Flanking Active TSS	HepG2	liver
14	chr15:78799000-78799400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:78799000-78799600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr15:78799000-78800000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr15:78799000-78800200	Active TSS	Fetal Brain Female	brain
18	chr15:78799000-78800400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:78799000-78800600	Active TSS	A549	lung
20	chr15:78799000-78800800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr15:78799200-78799400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:78799200-78799400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:78799200-78799400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:78799200-78799400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:78799200-78799400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:78799200-78799400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr15:78799200-78799400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
28	chr15:78799200-78799400	Bivalent/Poised TSS	Primary B cells from cord blood	blood
29	chr15:78799200-78799400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr15:78799200-78799400	Active TSS	Primary hematopoietic stem cells	blood
31	chr15:78799200-78799400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:78799200-78799400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr15:78799200-78799400	Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:78799200-78799400	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr15:78799200-78799400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:78799200-78799400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr15:78799200-78799400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr15:78799200-78799400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:78799200-78799400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr15:78799200-78799400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr15:78799200-78799400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr15:78799200-78799400	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr15:78799200-78799400	Enhancers	Fetal Heart	heart
44	chr15:78799200-78799400	Flanking Active TSS	Fetal Lung	lung
45	chr15:78799200-78799400	Enhancers	Placenta	Placenta
46	chr15:78799200-78799400	Flanking Active TSS	Fetal Stomach	stomach
47	chr15:78799200-78799400	Enhancers	Fetal Thymus	thymus
48	chr15:78799200-78799400	Flanking Active TSS	Pancreas	Pancrea
49	chr15:78799200-78799400	Active TSS	K562	blood
50	chr15:78799200-78799400	Flanking Active TSS	Osteobl	bone

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