Variant report

Variant	rs529219910
Chromosome Location	chr15:76135053-76135054
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	SIN3A	chr15:76135001-76137189	H1-hESC	embryonic stem cell:	n/a	chr15:76136504-76136515 chr15:76135370-76135383
2	E2F6	chr15:76134880-76137011	A549	lung:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
3	POLR2A	chr15:76135017-76136270	K562	blood:	n/a	n/a
4	UBTF	chr15:76134889-76137254	K562	blood:	n/a	n/a
5	MXI1	chr15:76134486-76137522	IMR90	lung:	n/a	n/a
6	POLR2A	chr15:76135010-76136490	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:76132928-76136942	MCF10A-Er-Src	breast:	n/a	n/a
8	MYC	chr15:76134974-76136095	K562	blood:	n/a	n/a
9	POLR2A	chr15:76134967-76136428	HL-60	blood:	n/a	n/a
10	MAX	chr15:76135012-76136323	K562	blood:	n/a	n/a
11	POLR2A	chr15:76135050-76136594	H1-neurons	neurons:	n/a	n/a
12	HEY1	chr15:76135013-76136495	K562	blood:	n/a	chr15:76135764-76135779 chr15:76135767-76135782
13	POLR2A	chr15:76134962-76136883	IMR90	lung:	n/a	n/a
14	TAL1	chr15:76135013-76136045	K562	blood:	n/a	n/a
15	SIN3AK20	chr15:76134961-76135570	A549	lung:	n/a	n/a
16	CTCF	chr15:76134980-76135130	BE2_C	brain:	n/a	n/a
17	MAZ	chr15:76134565-76137751	IMR90	lung:	n/a	n/a
18	E2F6	chr15:76134937-76136034	H1-hESC	embryonic stem cell:	n/a	chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
19	MAX	chr15:76134414-76137112	A549	lung:	n/a	n/a
20	CREB1	chr15:76135020-76136791	HepG2	liver:	n/a	n/a
21	CTCF	chr15:76135020-76135170	A549	lung:	n/a	chr15:76135140-76135149
22	POLR2A	chr15:76135015-76136528	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr15:76134852-76137080	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr15:76134920-76135070	HPAF	blood vessel:	n/a	n/a
25	MTA3	chr15:76135042-76135420	GM12878	blood:	n/a	n/a
26	POLR2A	chr15:76134964-76136915	K562	blood:	n/a	n/a
27	MYC	chr15:76134679-76137003	K562	blood:	n/a	n/a
28	BCL3	chr15:76134802-76135669	A549	lung:	n/a	n/a
29	POLR2A	chr15:76135021-76137002	GM12878	blood:	n/a	n/a
30	EP300	chr15:76134524-76136329	K562	blood:	n/a	chr15:76135395-76135411 chr15:76135769-76135778 chr15:76135773-76135789 chr15:76135736-76135745
31	POLR2A	chr15:76135033-76136449	HL-60	blood:	n/a	n/a
32	TCF12	chr15:76134710-76136940	A549	lung:	n/a	chr15:76135534-76135541 chr15:76135533-76135543 chr15:76135532-76135539
33	E2F6	chr15:76134972-76136925	K562	blood:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
34	E2F6	chr15:76134998-76136936	K562	blood:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
35	POLR2A	chr15:76135029-76135428	H1-hESC	embryonic stem cell:	n/a	n/a
36	ELF1	chr15:76135040-76136637	GM12878	blood:	n/a	chr15:76135878-76135890
37	MXI1	chr15:76134815-76137903	SK-N-SH	brain:	n/a	n/a
38	TAF1	chr15:76134988-76136999	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr15:76135014-76136954	K562	blood:	n/a	n/a
40	HCFC1	chr15:76134907-76136583	K562	blood:	n/a	n/a
41	MAX	chr15:76134932-76135894	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr15:76134987-76136748	HUVEC	blood vessel:	n/a	n/a
43	EP300	chr15:76135019-76135165	GM12878	blood:	n/a	n/a
44	ZNF143	chr15:76135026-76135830	K562	blood:	n/a	n/a
45	MAX	chr15:76134953-76136433	K562	blood:	n/a	n/a
46	TBL1XR1	chr15:76134947-76135959	K562	blood:	n/a	n/a
47	POLR2A	chr15:76135032-76137045	K562	blood:	n/a	n/a
48	CTCF	chr15:76135000-76135270	GM12872	blood:	n/a	chr15:76135140-76135149
49	POLR2A	chr15:76135015-76135572	GM12892	blood:	n/a	n/a
50	CHD2	chr15:76135029-76135841	H1-hESC	embryonic stem cell:	n/a	chr15:76135191-76135201 chr15:76135699-76135709

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	chr15:76134992..76136572-chr15:76350644..76353343,2	MCF-7	breast:
7	chr15:76133553..76135071-chr15:76150512..76152325,2	MCF-7	breast:
8	chr15:76120011..76122209-chr15:76134014..76135562,2	MCF-7	breast:
9	chr15:75660482..75662699-chr15:76134018..76135657,2	MCF-7	breast:

Variant related genes	Relation type
UBE2Q2	TF binding region
ENSG00000169758	Chromatin interaction
ENSG00000140400	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000167196	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000169752	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76129600-76135200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:76134600-76135200	Bivalent Enhancer	Thymus	Thymus
3	chr15:76134600-76135400	Flanking Active TSS	K562	blood
4	chr15:76134800-76135200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:76134800-76135200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr15:76134800-76135200	Enhancers	Aorta	Aorta
7	chr15:76134800-76135200	Enhancers	Spleen	Spleen
8	chr15:76134800-76135400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr15:76134800-76135400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:76134800-76135400	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr15:76134800-76135400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr15:76134800-76135400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr15:76134800-76136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr15:76134800-76136200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr15:76134800-76136600	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr15:76134800-76137000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:76134800-76137200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr15:76134800-76137400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:76134800-76137400	Active TSS	Psoas Muscle	Psoas
20	chr15:76134800-76140400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr15:76135000-76135200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:76135000-76135200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:76135000-76135200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr15:76135000-76135200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:76135000-76135200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:76135000-76135200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr15:76135000-76135200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:76135000-76135200	Active TSS	Primary B cells from cord blood	blood
29	chr15:76135000-76135200	Active TSS	Primary hematopoietic stem cells	blood
30	chr15:76135000-76135200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr15:76135000-76135200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:76135000-76135200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:76135000-76135200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr15:76135000-76135200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr15:76135000-76135200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:76135000-76135200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr15:76135000-76135200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr15:76135000-76135200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:76135000-76135200	Enhancers	Esophagus	oesophagus
40	chr15:76135000-76135200	Flanking Active TSS	Fetal Brain Female	brain
41	chr15:76135000-76135200	Enhancers	Fetal Heart	heart
42	chr15:76135000-76135200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
43	chr15:76135000-76135200	Flanking Active TSS	Fetal Lung	lung
44	chr15:76135000-76135200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr15:76135000-76135200	Flanking Active TSS	Small Intestine	intestine
46	chr15:76135000-76135200	Bivalent Enhancer	Stomach Mucosa	stomach
47	chr15:76135000-76135200	Flanking Bivalent TSS/Enh	HepG2	liver
48	chr15:76135000-76135200	Flanking Active TSS	HSMM	muscle
49	chr15:76135000-76135200	Flanking Active TSS	NHEK	skin
50	chr15:76135000-76135400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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