Variant report

Variant	rs566456558
Chromosome Location	chr15:76135376-76135377
allele	C/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	MYC	chr15:76135065-76135790	H1-hESC	embryonic stem cell:	n/a	n/a
2	IRF1	chr15:76135288-76136028	K562	blood:	n/a	chr15:76135697-76135711 chr15:76135873-76135887
3	NANOG	chr15:76135329-76135902	H1-hESC	embryonic stem cell:	n/a	n/a
4	SIN3A	chr15:76135001-76137189	H1-hESC	embryonic stem cell:	n/a	chr15:76136504-76136515 chr15:76135370-76135383
5	PML	chr15:76135264-76136502	MCF-7	breast:	n/a	n/a
6	E2F6	chr15:76134880-76137011	A549	lung:	n/a	chr15:76136869-76136883 chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
7	CEBPD	chr15:76135289-76136090	HepG2	liver:	n/a	n/a
8	POLR2A	chr15:76135017-76136270	K562	blood:	n/a	n/a
9	UBTF	chr15:76134889-76137254	K562	blood:	n/a	n/a
10	ELF1	chr15:76135301-76136282	K562	blood:	n/a	chr15:76135878-76135890
11	YY1	chr15:76135214-76136403	ECC-1	luminal epithelium:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
12	GABPA	chr15:76135183-76135985	K562	blood:	n/a	chr15:76135698-76135707
13	USF1	chr15:76135215-76135607	A549	lung:	n/a	chr15:76135323-76135339 chr15:76135394-76135410 chr15:76135523-76135539
14	E2F6	chr15:76135272-76135981	K562	blood:	n/a	chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
15	MYC	chr15:76135280-76135875	HepG2	liver:	n/a	n/a
16	MXI1	chr15:76134486-76137522	IMR90	lung:	n/a	n/a
17	POLR2A	chr15:76135010-76136490	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:76132928-76136942	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr15:76134974-76136095	K562	blood:	n/a	n/a
20	POLR2A	chr15:76134967-76136428	HL-60	blood:	n/a	n/a
21	MAX	chr15:76135012-76136323	K562	blood:	n/a	n/a
22	POLR2A	chr15:76135050-76136594	H1-neurons	neurons:	n/a	n/a
23	HEY1	chr15:76135013-76136495	K562	blood:	n/a	chr15:76135764-76135779 chr15:76135767-76135782
24	USF1	chr15:76135244-76135672	H1-hESC	embryonic stem cell:	n/a	chr15:76135323-76135339 chr15:76135394-76135410 chr15:76135523-76135539
25	POLR2A	chr15:76135073-76136856	K562	blood:	n/a	n/a
26	CTCF	chr15:76135100-76135390	HCPEpiC	choroid plexus:	n/a	chr15:76135140-76135149
27	POLR2A	chr15:76134962-76136883	IMR90	lung:	n/a	n/a
28	CTCF	chr15:76135260-76135410	BJ	skin:	n/a	chr15:76135395-76135408 chr15:76135398-76135407
29	TBP	chr15:76135097-76136950	K562	blood:	n/a	n/a
30	CTCF	chr15:76135320-76135470	GM12871	blood:	n/a	chr15:76135395-76135408 chr15:76135398-76135407
31	MAX	chr15:76135136-76137105	HCT-116	colon:	n/a	n/a
32	TAL1	chr15:76135013-76136045	K562	blood:	n/a	n/a
33	SIN3AK20	chr15:76134961-76135570	A549	lung:	n/a	n/a
34	BACH1	chr15:76135149-76136412	H1-hESC	embryonic stem cell:	n/a	n/a
35	MXI1	chr15:76135094-76136900	GM12878	blood:	n/a	n/a
36	POLR2A	chr15:76135233-76136494	Gliobla	brain:	n/a	n/a
37	YY1	chr15:76135067-76136639	GM12878	blood:	n/a	chr15:76135438-76135452 chr15:76135698-76135707 chr15:76135771-76135780 chr15:76135848-76135860 chr15:76135849-76135859 chr15:76135772-76135786 chr15:76135847-76135864 chr15:76135736-76135745 chr15:76136291-76136305
38	MAZ	chr15:76134565-76137751	IMR90	lung:	n/a	n/a
39	E2F6	chr15:76134937-76136034	H1-hESC	embryonic stem cell:	n/a	chr15:76135734-76135744 chr15:76135527-76135537 chr15:76135698-76135707 chr15:76135852-76135867
40	MAX	chr15:76134414-76137112	A549	lung:	n/a	n/a
41	POLR2A	chr15:76135189-76135432	GM12892	blood:	n/a	n/a
42	MYC	chr15:76135144-76136392	MCF-7	breast:	n/a	n/a
43	TAF1	chr15:76135100-76136010	K562	blood:	n/a	n/a
44	CREB1	chr15:76135020-76136791	HepG2	liver:	n/a	n/a
45	POLR2A	chr15:76135060-76136909	A549	lung:	n/a	n/a
46	MAX	chr15:76135071-76137062	SK-N-SH	brain:	n/a	n/a
47	JUND	chr15:76135056-76135478	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr15:76135015-76136528	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr15:76134852-76137080	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:76135188-76137523	GM12878	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	chr15:76066670..76069216-chr15:76135374..76137197,2	MCF-7	breast:
4	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
5	chr15:75659414..75661741-chr15:76133150..76135870,3	K562	blood:
6	chr15:76133453..76135446-chr15:76194231..76197164,2	MCF-7	breast:
7	chr15:76134992..76136572-chr15:76350644..76353343,2	MCF-7	breast:
8	chr15:76120011..76122209-chr15:76134014..76135562,2	MCF-7	breast:
9	chr15:75917263..75918956-chr15:76135075..76137725,2	K562	blood:
10	chr15:75660482..75662699-chr15:76134018..76135657,2	MCF-7	breast:

Variant related genes	Relation type
UBE2Q2	TF binding region
ENSG00000169752	Chromatin interaction
ENSG00000260274	Chromatin interaction
ENSG00000167196	Chromatin interaction
ENSG00000169371	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000187812	Chromatin interaction
ENSG00000169758	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76134600-76135400	Flanking Active TSS	K562	blood
2	chr15:76134800-76135400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr15:76134800-76135400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:76134800-76135400	Flanking Active TSS	Fetal Muscle Leg	muscle
5	chr15:76134800-76135400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr15:76134800-76135400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr15:76134800-76136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr15:76134800-76136200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr15:76134800-76136600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:76134800-76137000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:76134800-76137200	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr15:76134800-76137400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr15:76134800-76137400	Active TSS	Psoas Muscle	Psoas
14	chr15:76134800-76140400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr15:76135000-76135400	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:76135000-76135400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:76135000-76135400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr15:76135000-76135400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:76135000-76135400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
20	chr15:76135000-76135400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:76135000-76135400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr15:76135000-76135400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
23	chr15:76135000-76135400	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr15:76135000-76135400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr15:76135000-76135400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr15:76135000-76135400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr15:76135000-76135400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr15:76135000-76135400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
29	chr15:76135000-76135400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:76135000-76135400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr15:76135000-76135400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:76135000-76135400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:76135000-76135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:76135000-76135400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:76135000-76135400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:76135000-76135400	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr15:76135000-76135400	Flanking Active TSS	Brain Germinal Matrix	brain
38	chr15:76135000-76135400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
39	chr15:76135000-76135400	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr15:76135000-76135400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr15:76135000-76135400	Flanking Active TSS	Fetal Brain Male	brain
42	chr15:76135000-76135400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
43	chr15:76135000-76135400	Flanking Active TSS	Fetal Muscle Trunk	muscle
44	chr15:76135000-76135400	Flanking Active TSS	Placenta	Placenta
45	chr15:76135000-76135400	Flanking Active TSS	Fetal Stomach	stomach
46	chr15:76135000-76135400	Flanking Active TSS	Pancreas	Pancrea
47	chr15:76135000-76135400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:76135000-76135400	Flanking Active TSS	Right Ventricle	heart
49	chr15:76135000-76135400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr15:76135000-76135400	Flanking Active TSS	GM12878-XiMat	blood

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