Variant report

Variant	rs73424963
Chromosome Location	chr15:59560812-59560813
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	SP1	chr15:59560198-59561718	HCT-116	colon:	n/a	n/a
2	TBP	chr15:59560284-59561505	Hela-S3	cervix:	n/a	n/a
3	E2F4	chr15:59560560-59561287	MCF10A-Er-Src	breast:	n/a	chr15:59560629-59560636
4	EP300	chr15:59560806-59561722	A549	lung:	n/a	chr15:59561395-59561404 chr15:59561394-59561403
5	SP1	chr15:59560499-59561813	A549	lung:	n/a	n/a
6	CEBPB	chr15:59560360-59561613	Hela-S3	cervix:	n/a	chr15:59561204-59561217
7	SP1	chr15:59560262-59560993	HCT-116	colon:	n/a	n/a
8	JUND	chr15:59560275-59560843	HCT-116	colon:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59560656-59560663 chr15:59560648-59560660
9	BRCA1	chr15:59560263-59561583	Hela-S3	cervix:	n/a	chr15:59560671-59560678
10	MAFK	chr15:59559917-59561655	Hela-S3	cervix:	n/a	chr15:59560106-59560117 chr15:59560101-59560117 chr15:59560105-59560116 chr15:59560189-59560200 chr15:59560244-59560258 chr15:59560105-59560116 chr15:59560104-59560118 chr15:59560189-59560200 chr15:59560106-59560117
11	POLR2A	chr15:59560808-59560818	MCF10A-Er-Src	breast:	n/a	n/a
12	CUX1	chr15:59560466-59560903	GM12878	blood:	n/a	n/a
13	TCF12	chr15:59560753-59562345	A549	lung:	n/a	n/a
14	FOS	chr15:59560390-59561591	MCF10A-Er-Src	breast:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59561393-59561405 chr15:59561395-59561404 chr15:59561394-59561403 chr15:59561395-59561402 chr15:59560656-59560663 chr15:59560653-59560664 chr15:59560648-59560660 chr15:59561396-59561407 chr15:59561395-59561403
15	FOS	chr15:59560355-59560883	HUVEC	blood vessel:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59560656-59560663 chr15:59560653-59560664 chr15:59560648-59560660
16	POLR2A	chr15:59560395-59561189	MCF10A-Er-Src	breast:	n/a	n/a
17	RCOR1	chr15:59560401-59561706	Hela-S3	cervix:	n/a	n/a
18	FOSL1	chr15:59560310-59561757	HCT-116	colon:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59561393-59561405 chr15:59561395-59561404 chr15:59561394-59561403 chr15:59561395-59561402 chr15:59560656-59560663 chr15:59560648-59560660 chr15:59561396-59561407 chr15:59561395-59561403
19	RFX5	chr15:59560363-59561591	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr15:59560394-59561626	Hela-S3	cervix:	n/a	n/a
21	MAX	chr15:59560266-59560924	HCT-116	colon:	n/a	n/a
22	JUN	chr15:59560385-59561762	Hela-S3	cervix:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59561393-59561405 chr15:59561395-59561404 chr15:59561394-59561403 chr15:59561395-59561402 chr15:59560656-59560663 chr15:59560648-59560660 chr15:59561396-59561407 chr15:59561395-59561403
23	JUND	chr15:59560418-59561670	Hela-S3	cervix:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59561393-59561405 chr15:59561395-59561404 chr15:59561394-59561403 chr15:59561395-59561402 chr15:59560656-59560663 chr15:59560648-59560660 chr15:59561396-59561407 chr15:59561393-59561404 chr15:59561395-59561403
24	POLR2A	chr15:59560306-59561708	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:59560303-59560895	Hela-S3	cervix:	n/a	n/a
26	JUND	chr15:59560203-59560984	HCT-116	colon:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59560261-59560273 chr15:59560656-59560663 chr15:59560648-59560660
27	CBX3	chr15:59560281-59560987	HCT-116	colon:	n/a	n/a
28	FOSL2	chr15:59560397-59561838	A549	lung:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59561393-59561405 chr15:59561395-59561404 chr15:59561394-59561403 chr15:59561395-59561402 chr15:59560656-59560663 chr15:59560648-59560660 chr15:59561396-59561407 chr15:59561395-59561403
29	STAT3	chr15:59560353-59561612	MCF10A-Er-Src	breast:	n/a	chr15:59561394-59561403 chr15:59561395-59561404 chr15:59561159-59561166 chr15:59560655-59560664
30	MAX	chr15:59560468-59561641	Hela-S3	cervix:	n/a	chr15:59561394-59561403
31	POLR2A	chr15:59560292-59561305	Hela-S3	cervix:	n/a	n/a
32	EP300	chr15:59560376-59561614	Hela-S3	cervix:	n/a	chr15:59560654-59560663 chr15:59561395-59561404 chr15:59561394-59561403
33	FOSL2	chr15:59560366-59560914	SK-N-SH	brain:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59560656-59560663 chr15:59560648-59560660
34	FOSL1	chr15:59560302-59560907	HCT-116	colon:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59560656-59560663 chr15:59560648-59560660
35	STAT3	chr15:59560378-59561613	Hela-S3	cervix:	n/a	chr15:59561394-59561403 chr15:59561395-59561404 chr15:59561159-59561166 chr15:59560655-59560664
36	MYC	chr15:59560424-59560885	MCF10A-Er-Src	breast:	n/a	n/a
37	ZNF384	chr15:59560761-59561135	GM12878	blood:	n/a	n/a
38	FOS	chr15:59560348-59561595	MCF10A-Er-Src	breast:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59561393-59561405 chr15:59561395-59561404 chr15:59561394-59561403 chr15:59561395-59561402 chr15:59560656-59560663 chr15:59560653-59560664 chr15:59560648-59560660 chr15:59561396-59561407 chr15:59561395-59561403
39	STAT3	chr15:59560286-59561630	MCF10A-Er-Src	breast:	n/a	chr15:59561394-59561403 chr15:59561395-59561404 chr15:59561159-59561166 chr15:59560655-59560664
40	FOS	chr15:59560397-59560827	MCF10A-Er-Src	breast:	n/a	chr15:59560573-59560582 chr15:59560654-59560663 chr15:59560656-59560663 chr15:59560653-59560664 chr15:59560648-59560660

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59552086..59554457-chr15:59559341..59561438,2	K562	blood:
2	chr15:59559608..59563212-chr15:59663665..59667768,4	MCF-7	breast:

Variant related genes	Relation type
MYO1E	TF binding region
ENSG00000157483	Chromatin interaction
ENSG00000157470	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs58511507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59782447	1.00[AFR][1000 genomes]
rs73420814	1.00[AFR][1000 genomes]
rs73422983	1.00[AFR][1000 genomes]
rs73424956	1.00[AMR][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	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv833027	chr15:59474806-59608544	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv904273	chr15:59518488-59567137	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59515800-59566600	Weak transcription	Pancreas	Pancrea
2	chr15:59517800-59564200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr15:59521600-59566400	Weak transcription	Psoas Muscle	Psoas
4	chr15:59524600-59569200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:59524600-59574600	Weak transcription	Lung	lung
6	chr15:59525200-59566600	Weak transcription	Small Intestine	intestine
7	chr15:59525200-59582000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr15:59530600-59568000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr15:59530800-59569000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:59533400-59564000	Weak transcription	Ovary	ovary
11	chr15:59533400-59566800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr15:59540000-59568800	Weak transcription	Fetal Kidney	kidney
13	chr15:59540600-59561400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:59541200-59566400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr15:59542400-59568200	Weak transcription	Gastric	stomach
16	chr15:59542600-59563000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr15:59542800-59565400	Weak transcription	Left Ventricle	heart
18	chr15:59543200-59568200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:59544000-59566200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:59544600-59582400	Weak transcription	Primary B cells from cord blood	blood
21	chr15:59547400-59564000	Weak transcription	Fetal Stomach	stomach
22	chr15:59547400-59587000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:59548200-59566400	Weak transcription	Aorta	Aorta
24	chr15:59548200-59567800	Weak transcription	Fetal Heart	heart
25	chr15:59550000-59561400	Weak transcription	Fetal Muscle Leg	muscle
26	chr15:59550000-59568000	Weak transcription	Colonic Mucosa	Colon
27	chr15:59550000-59571600	Weak transcription	Esophagus	oesophagus
28	chr15:59550200-59566000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr15:59550600-59574600	Weak transcription	Adipose Nuclei	Adipose
30	chr15:59551400-59566200	Weak transcription	HSMMtube	muscle
31	chr15:59552000-59569800	Weak transcription	Brain Anterior Caudate	brain
32	chr15:59552600-59564000	Strong transcription	GM12878-XiMat	blood
33	chr15:59552600-59566400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:59554800-59562800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:59557600-59565200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr15:59557600-59566400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr15:59558200-59561800	Enhancers	HMEC	breast
38	chr15:59558400-59563600	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr15:59558400-59564400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr15:59558600-59561600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:59558600-59563600	Weak transcription	Liver	Liver
42	chr15:59558600-59565400	Weak transcription	Stomach Mucosa	stomach
43	chr15:59558800-59561000	Weak transcription	Fetal Intestine Large	intestine
44	chr15:59558800-59563800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:59558800-59565600	Weak transcription	HepG2	liver
46	chr15:59559600-59561000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr15:59559600-59561000	Enhancers	Brain Hippocampus Middle	brain
48	chr15:59559600-59561400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:59559600-59561400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:59559600-59562000	Genic enhancers	NHEK	skin

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