Variant report

Variant	rs4489967
Chromosome Location	chr15:75135954-75135955
allele	G/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	TAF1	chr15:75134875-75136001	ECC-1	luminal epithelium:	n/a	n/a
2	EGR1	chr15:75135567-75136032	ECC-1	luminal epithelium:	n/a	chr15:75135799-75135812 chr15:75135802-75135812
3	USF1	chr15:75135463-75136039	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr15:75134868-75135990	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:75134600-75136938	SK-N-MC	brain:	n/a	n/a
6	REST	chr15:75134466-75136193	H1-neurons	neurons:	n/a	n/a
7	MYC	chr15:75135004-75136097	K562	blood:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
8	CREB1	chr15:75135297-75136022	GM12878	blood:	n/a	n/a
9	MAX	chr15:75134929-75136074	H1-hESC	embryonic stem cell:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
10	POLR2A	chr15:75134832-75136029	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr15:75135143-75136036	GM12891	blood:	n/a	n/a
12	MAX	chr15:75134844-75136003	H1-hESC	embryonic stem cell:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
13	PML	chr15:75134957-75136143	GM12878	blood:	n/a	n/a
14	ZBTB7A	chr15:75134896-75135966	ECC-1	luminal epithelium:	n/a	n/a
15	GATA3	chr15:75135032-75136048	A549	lung:	n/a	n/a
16	USF1	chr15:75135346-75136013	HCT-116	colon:	n/a	n/a
17	USF1	chr15:75135378-75135966	K562	blood:	n/a	n/a
18	MAX	chr15:75134836-75136124	HCT-116	colon:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
19	POLR2A	chr15:75134947-75136094	HL-60	blood:	n/a	n/a
20	MYC	chr15:75134891-75136063	K562	blood:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
21	RUNX3	chr15:75134983-75136024	GM12878	blood:	n/a	chr15:75135488-75135505
22	MAX	chr15:75135472-75136125	MCF-7	breast:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
23	NR2F2	chr15:75134930-75136102	K562	blood:	n/a	n/a
24	SIN3A	chr15:75134940-75135980	H1-hESC	embryonic stem cell:	n/a	chr15:75135766-75135775 chr15:75135784-75135795 chr15:75135661-75135670 chr15:75135285-75135298
25	MAX	chr15:75134845-75136126	MCF-7	breast:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
26	MAX	chr15:75134841-75136112	ECC-1	luminal epithelium:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
27	POLR2A	chr15:75134889-75136115	U87	brain:	n/a	n/a
28	EBF1	chr15:75135142-75135984	GM12878	blood:	n/a	chr15:75135725-75135734
29	PML	chr15:75134952-75136031	MCF-7	breast:	n/a	n/a
30	TEAD4	chr15:75135523-75135966	K562	blood:	n/a	n/a
31	POLR2A	chr15:75134818-75136114	U87	brain:	n/a	n/a
32	POLR2A	chr15:75135171-75136071	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr15:75134905-75136168	HCT-116	colon:	n/a	n/a
34	FOXM1	chr15:75135286-75136295	GM12878	blood:	n/a	n/a
35	MXI1	chr15:75135361-75136086	K562	blood:	n/a	chr15:75135661-75135670 chr15:75135663-75135672
36	POLR2A	chr15:75135574-75136052	GM12878	blood:	n/a	n/a
37	MAX	chr15:75134845-75136101	K562	blood:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
38	POLR2A	chr15:75134996-75135973	GM12878	blood:	n/a	n/a
39	MXI1	chr15:75134338-75137403	SK-N-SH	brain:	n/a	chr15:75135661-75135670 chr15:75135663-75135672
40	MYC	chr15:75135032-75136079	K562	blood:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
41	NFIC	chr15:75135441-75136067	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:75134825-75136050	HepG2	liver:	n/a	n/a
43	MYC	chr15:75135045-75135957	H1-hESC	embryonic stem cell:	n/a	chr15:75135660-75135675 chr15:75135765-75135774 chr15:75135660-75135669 chr15:75135661-75135671 chr15:75135774-75135784
44	POLR2A	chr15:75134824-75136052	H1-hESC	embryonic stem cell:	n/a	n/a
45	RUNX3	chr15:75135209-75135970	GM12878	blood:	n/a	chr15:75135488-75135505
46	POLR2A	chr15:75134882-75136691	HL-60	blood:	n/a	n/a
47	HCFC1	chr15:75134645-75136160	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr15:75134924-75136058	GM12878	blood:	n/a	n/a
49	USF1	chr15:75135373-75135987	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:75135041-75135971	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:74926089..74928915-chr15:75133890..75136502,2	MCF-7	breast:
2	chr15:75073852..75074625-chr15:75135150..75135967,3	MCF-7	breast:
3	chr15:75079215..75085047-chr15:75133215..75137478,7	MCF-7	breast:
4	chr15:74906653..74908395-chr15:75135147..75137390,2	K562	blood:
5	chr15:74906299..74909390-chr15:75133726..75137690,7	MCF-7	breast:
6	chr15:75135788..75137937-chr15:75174373..75175874,2	MCF-7	breast:
7	chr15:75133989..75136127-chr15:75187296..75189781,2	K562	blood:
8	chr15:75129767..75136088-chr15:75163908..75167881,8	K562	blood:
9	chr15:75118538..75120714-chr15:75135771..75139266,4	K562	blood:
10	chr15:75132063..75136088-chr15:75165447..75167881,5	K562	blood:
11	chr15:75105168..75109047-chr15:75134120..75137766,4	K562	blood:
12	chr15:75134593..75136676-chr15:75247766..75251919,4	MCF-7	breast:
13	chr15:75072228..75074857-chr15:75134119..75137193,5	K562	blood:
14	chr15:75106165..75113668-chr15:75132311..75136608,10	MCF-7	breast:
15	chr15:75133683..75136875-chr15:75181140..75184004,7	K562	blood:
16	chr15:75135715..75138276-chr15:75139819..75143025,6	K562	blood:
17	chr15:75135427..75140750-chr15:75141950..75147054,10	K562	blood:
18	chr15:75133406..75136691-chr15:75228046..75231533,6	MCF-7	breast:
19	chr15:75090900..75093717-chr15:75134239..75137508,3	MCF-7	breast:
20	chr15:75133950..75137156-chr15:75180779..75184661,9	MCF-7	breast:
21	chr15:75134051..75136456-chr15:75197581..75199707,3	K562	blood:
22	chr15:75135797..75138668-chr15:75143176..75146551,4	K562	blood:
23	chr15:75073376..75079113-chr15:75130007..75137097,15	MCF-7	breast:
24	chr15:75133790..75137554-chr15:75195204..75200578,14	MCF-7	breast:
25	chr15:75132595..75137581-chr15:75190842..75194074,4	K562	blood:
26	chr15:75134049..75139648-chr15:75161531..75167020,13	MCF-7	breast:
27	chr15:75131329..75142649-chr15:75180088..75200119,60	MCF-7	breast:
28	chr15:75134794..75137581-chr15:75190842..75193156,3	K562	blood:
29	chr15:75135336..75137971-chr15:75192308..75194100,2	MCF-7	breast:
30	chr15:75131716..75139878-chr15:75227772..75233177,11	MCF-7	breast:
31	chr15:75072623..75074857-chr15:75134348..75137142,2	K562	blood:

Variant related genes	Relation type
ULK3	TF binding region
ENSG00000178802	Chromatin interaction
ENSG00000179335	Chromatin interaction
ENSG00000178761	Chromatin interaction
ENSG00000213578	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000260919	Chromatin interaction
ENSG00000264386	Chromatin interaction
ENSG00000178718	Chromatin interaction
ENSG00000178741	Chromatin interaction
ENSG00000261606	Chromatin interaction
ENSG00000179151	Chromatin interaction
ENSG00000140497	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000103653	Chromatin interaction
ENSG00000260824	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1060480	1.00[MEX][hapmap]
rs28633484	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv833055	chr15:74988344-75166288	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv904381	chr15:75108636-75242155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv904382	chr15:75129594-75140854	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv569992	chr15:75132319-75137868	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75134200-75136000	Active TSS	Brain Anterior Caudate	brain
2	chr15:75134400-75136000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:75134400-75136200	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:75134400-75136200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr15:75134400-75136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:75134600-75136000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:75134600-75136200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr15:75134600-75136200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:75134600-75136200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr15:75134600-75136600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr15:75134600-75136600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:75134800-75136000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr15:75134800-75136000	Active TSS	H1 Cell Line	embryonic stem cell
14	chr15:75134800-75136000	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr15:75134800-75136000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:75134800-75136000	Active TSS	Aorta	Aorta
17	chr15:75134800-75136000	Active TSS	Fetal Lung	lung
18	chr15:75134800-75136000	Active TSS	Gastric	stomach
19	chr15:75134800-75136000	Active TSS	Left Ventricle	heart
20	chr15:75134800-75136000	Active TSS	Ovary	ovary
21	chr15:75134800-75136200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr15:75134800-75136200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr15:75134800-75136200	Active TSS	Fetal Brain Female	brain
24	chr15:75134800-75136200	Active TSS	Fetal Kidney	kidney
25	chr15:75134800-75136400	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr15:75134800-75136400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr15:75135000-75136000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:75135000-75136000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:75135000-75136000	Active TSS	Brain Angular Gyrus	brain
30	chr15:75135000-75136000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:75135000-75136000	Active TSS	Lung	lung
32	chr15:75135000-75136000	Transcr. at gene 5' and 3'	Right Atrium	heart
33	chr15:75135000-75136200	Active TSS	Brain Germinal Matrix	brain
34	chr15:75135000-75136200	Active TSS	Psoas Muscle	Psoas
35	chr15:75135200-75136000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:75135200-75136000	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr15:75135200-75136000	Active TSS	Brain Substantia Nigra	brain
38	chr15:75135400-75136200	Enhancers	Stomach Mucosa	stomach
39	chr15:75135400-75136600	Enhancers	Fetal Brain Male	brain
40	chr15:75135400-75136800	Enhancers	Primary B cells from cord blood	blood
41	chr15:75135400-75136800	Enhancers	Fetal Heart	heart
42	chr15:75135600-75136000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:75135600-75136000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr15:75135600-75136000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:75135600-75136000	Flanking Active TSS	Liver	Liver
46	chr15:75135600-75136000	Flanking Active TSS	Colonic Mucosa	Colon
47	chr15:75135600-75136000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:75135600-75136000	Flanking Active TSS	Thymus	Thymus
49	chr15:75135600-75136000	Flanking Active TSS	Spleen	Spleen
50	chr15:75135600-75136000	Flanking Active TSS	Hela-S3	cervix

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