Variant report

Variant	rs562075269
Chromosome Location	chr15:76134934-76134935
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	E2F6	chr15:76134880-76137011	A549	lung:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
2	UBTF	chr15:76134889-76137254	K562	blood:	n/a	n/a
3	MXI1	chr15:76134486-76137522	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:76132928-76136942	MCF10A-Er-Src	breast:	n/a	n/a
5	MAZ	chr15:76134565-76137751	IMR90	lung:	n/a	n/a
6	MAX	chr15:76134414-76137112	A549	lung:	n/a	n/a
7	MAX	chr15:76134852-76137080	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr15:76134920-76135070	HPAF	blood vessel:	n/a	n/a
9	MYC	chr15:76134679-76137003	K562	blood:	n/a	n/a
10	BCL3	chr15:76134802-76135669	A549	lung:	n/a	n/a
11	EP300	chr15:76134524-76136329	K562	blood:	n/a	chr15:76135395-76135411 chr15:76135769-76135778 chr15:76135773-76135789 chr15:76135736-76135745
12	TCF12	chr15:76134710-76136940	A549	lung:	n/a	chr15:76135534-76135541 chr15:76135533-76135543 chr15:76135532-76135539
13	MXI1	chr15:76134815-76137903	SK-N-SH	brain:	n/a	n/a
14	HCFC1	chr15:76134907-76136583	K562	blood:	n/a	n/a
15	MAX	chr15:76134932-76135894	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUN	chr15:76134249-76137370	K562	blood:	n/a	chr15:76137191-76137203 chr15:76137010-76137019
17	MAX	chr15:76134780-76136944	K562	blood:	n/a	n/a
18	MYC	chr15:76134486-76136286	K562	blood:	n/a	n/a
19	MAX	chr15:76134921-76137009	A549	lung:	n/a	n/a
20	SP1	chr15:76134915-76136950	A549	lung:	n/a	chr15:76135699-76135708 chr15:76136292-76136301 chr15:76134995-76135005 chr15:76136302-76136314 chr15:76136302-76136314 chr15:76135699-76135708 chr15:76135698-76135707 chr15:76135697-76135709 chr15:76136368-76136382 chr15:76136308-76136315 chr15:76135698-76135708 chr15:76136303-76136312 chr15:76135698-76135708 chr15:76135697-76135709
21	MAX	chr15:76134930-76136406	HepG2	liver:	n/a	n/a
22	GATA1	chr15:76134898-76137052	PBDE	blood:	n/a	n/a
23	MAX	chr15:76134911-76137039	MCF-7	breast:	n/a	n/a
24	E2F6	chr15:76134783-76136990	H1-hESC	embryonic stem cell:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
25	MAX	chr15:76134915-76136485	ECC-1	luminal epithelium:	n/a	n/a
26	HA-E2F1	chr15:76134699-76137102	MCF-7	breast:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707
27	POLR2A	chr15:76134312-76137135	H1-hESC	embryonic stem cell:	n/a	n/a
28	RCOR1	chr15:76134458-76135563	K562	blood:	n/a	n/a
29	MAX	chr15:76134891-76136949	HepG2	liver:	n/a	n/a
30	MYC	chr15:76134833-76136963	K562	blood:	n/a	n/a
31	POLR2A	chr15:76132857-76137099	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr15:76134843-76136932	PANC-1	pancreas:	n/a	n/a
33	MYC	chr15:76134807-76136899	A549	lung:	n/a	n/a
34	POLR2A	chr15:76134766-76136970	K562	blood:	n/a	n/a
35	MAZ	chr15:76134641-76137022	K562	blood:	n/a	n/a
36	REST	chr15:76134868-76135762	A549	lung:	n/a	chr15:76135325-76135338 chr15:76135679-76135692
37	REST	chr15:76134914-76135458	A549	lung:	n/a	chr15:76135325-76135338
38	POLR2A	chr15:76134861-76136926	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76133681..76139746-chr15:76193985..76199740,23	MCF-7	breast:
2	chr15:76133451..76137775-chr15:76156108..76161375,6	MCF-7	breast:
3	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
4	chr15:75659414..75661741-chr15:76133150..76135870,3	K562	blood:
5	chr15:76133453..76135446-chr15:76194231..76197164,2	MCF-7	breast:
6	chr15:76133553..76135071-chr15:76150512..76152325,2	MCF-7	breast:
7	chr15:76120011..76122209-chr15:76134014..76135562,2	MCF-7	breast:
8	chr15:75660482..75662699-chr15:76134018..76135657,2	MCF-7	breast:

Variant related genes	Relation type
UBE2Q2	TF binding region
ENSG00000167196	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000140400	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv3438606	chr15:76134422-76137270	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76126200-76135000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:76129400-76135000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:76129600-76135000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr15:76129600-76135000	Weak transcription	Fetal Heart	heart
5	chr15:76129600-76135200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr15:76129800-76135000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr15:76129800-76135000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:76129800-76135000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:76129800-76135000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:76130000-76135000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:76130000-76135000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr15:76130000-76135000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:76130000-76135000	Weak transcription	NHLF	lung
14	chr15:76130400-76135000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:76130600-76135000	Weak transcription	HSMM	muscle
16	chr15:76131800-76135000	Weak transcription	NHEK	skin
17	chr15:76132000-76135000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:76132000-76135000	Weak transcription	HMEC	breast
19	chr15:76132800-76135000	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:76133000-76135000	Enhancers	Fetal Stomach	stomach
21	chr15:76133200-76135000	Weak transcription	Left Ventricle	heart
22	chr15:76133400-76135000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:76133400-76135000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:76133400-76135000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:76133400-76135000	Weak transcription	Brain Germinal Matrix	brain
26	chr15:76133400-76135000	Weak transcription	Ovary	ovary
27	chr15:76133400-76135000	Weak transcription	Small Intestine	intestine
28	chr15:76133400-76135000	Weak transcription	Hela-S3	cervix
29	chr15:76133400-76135000	Weak transcription	NH-A	brain
30	chr15:76133400-76135000	Weak transcription	NHDF-Ad	bronchial
31	chr15:76133600-76135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:76133600-76135000	Weak transcription	Adipose Nuclei	Adipose
33	chr15:76134000-76135000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr15:76134000-76135000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:76134600-76135000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:76134600-76135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:76134600-76135000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:76134600-76135000	Enhancers	Fetal Lung	lung
39	chr15:76134600-76135000	Bivalent Enhancer	HepG2	liver
40	chr15:76134600-76135200	Bivalent Enhancer	Thymus	Thymus
41	chr15:76134600-76135400	Flanking Active TSS	K562	blood
42	chr15:76134800-76135000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
43	chr15:76134800-76135000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr15:76134800-76135000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:76134800-76135000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:76134800-76135000	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr15:76134800-76135000	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:76134800-76135000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:76134800-76135000	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr15:76134800-76135000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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