Variant report

Variant	rs577320362
Chromosome Location	chr15:45480719-45480720
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	EGR1	chr15:45480662-45480955	GM12878	blood:	n/a	chr15:45480854-45480868 chr15:45480915-45480924 chr15:45480911-45480920
2	RXRA	chr15:45480665-45480972	GM12878	blood:	n/a	n/a
3	PAX5	chr15:45480681-45480970	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:45480086-45481060	GM12892	blood:	n/a	n/a
5	ZNF263	chr15:45480253-45481019	HEK293-T-REx	kidney:	n/a	chr15:45480654-45480663 chr15:45480651-45480660 chr15:45480300-45480309 chr15:45480686-45480695
6	POLR2A	chr15:45480235-45481027	GM12892	blood:	n/a	n/a
7	TCF12	chr15:45480616-45481041	GM12878	blood:	n/a	n/a
8	MXI1	chr15:45480351-45480925	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr15:45480522-45481055	GM12878	blood:	n/a	n/a
10	RELA	chr15:45480632-45481035	GM10847	blood:	n/a	n/a
11	EBF1	chr15:45480376-45481102	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
12	POLR2A	chr15:45480200-45480972	GM12891	blood:	n/a	n/a
13	EP300	chr15:45480529-45481064	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:45479977-45480806	IMR90	lung:	n/a	n/a
15	EBF1	chr15:45480510-45480955	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
16	MTA3	chr15:45480331-45481062	GM12878	blood:	n/a	n/a
17	FOXM1	chr15:45480508-45481108	GM12878	blood:	n/a	n/a
18	RELA	chr15:45480708-45481039	GM18505	blood:	n/a	n/a
19	MAX	chr15:45480669-45481040	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr15:45479855-45481070	GM12878	blood:	n/a	n/a
21	EP300	chr15:45480599-45481088	GM12878	blood:	n/a	n/a
22	NFATC1	chr15:45480597-45481065	GM12878	blood:	n/a	n/a
23	TCF12	chr15:45480605-45481002	GM12878	blood:	n/a	n/a
24	RELA	chr15:45480477-45481046	GM19193	blood:	n/a	n/a
25	PAX5	chr15:45480687-45480967	GM12878	blood:	n/a	n/a
26	ELK1	chr15:45480389-45481026	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:45480220-45481151	GM12878	blood:	n/a	n/a
28	TCF3	chr15:45480612-45481051	GM12878	blood:	n/a	chr15:45480869-45480878 chr15:45480866-45480881
29	EBF1	chr15:45480537-45481035	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
30	RELA	chr15:45480645-45481058	GM19099	blood:	n/a	n/a
31	POU2F2	chr15:45480666-45480943	GM12878	blood:	n/a	n/a
32	CHD2	chr15:45480088-45481036	GM12878	blood:	n/a	chr15:45480242-45480252 chr15:45480231-45480241
33	RCOR1	chr15:45480287-45481040	GM12878	blood:	n/a	n/a
34	RUNX3	chr15:45480506-45481041	GM12878	blood:	n/a	n/a
35	POU2F2	chr15:45480140-45481079	GM12878	blood:	n/a	chr15:45480233-45480245 chr15:45480238-45480250
36	REST	chr15:45479956-45480883	H1-neurons	neurons:	n/a	n/a
37	MAZ	chr15:45479023-45481127	IMR90	lung:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
38	POLR2A	chr15:45479943-45481057	H1-neurons	neurons:	n/a	n/a
39	EGR1	chr15:45480696-45480962	GM12878	blood:	n/a	chr15:45480854-45480868 chr15:45480915-45480924 chr15:45480911-45480920
40	MAX	chr15:45480356-45481043	H1-hESC	embryonic stem cell:	n/a	chr15:45480427-45480434 chr15:45480425-45480434
41	BACH1	chr15:45480450-45480957	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr15:45480682-45480976	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:45480582-45480903	GM12878	blood:	n/a	n/a
44	TAF1	chr15:45479941-45480876	H1-neurons	neurons:	n/a	n/a
45	CUX1	chr15:45480537-45480971	GM12878	blood:	n/a	n/a
46	NFIC	chr15:45480470-45481150	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:45479952-45480918	GM15510	blood:	n/a	n/a
48	POU2F2	chr15:45480235-45480959	GM12891	blood:	n/a	chr15:45480238-45480250
49	POLR2A	chr15:45480246-45480924	GM12891	blood:	n/a	n/a
50	BCL11A	chr15:45480662-45480952	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:45465361..45468029-chr15:45478692..45480743,2	MCF-7	breast:
2	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
3	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
4	chr15:45478077..45482452-chr15:45491020..45494377,5	MCF-7	breast:
5	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
6	chr15:45465443..45468186-chr15:45479581..45482219,2	MCF-7	breast:

Variant related genes	Relation type
SHF	TF binding region
ENSG00000138606	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000259932	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
6	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
7	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
8	esv3339591	chr15:45478685-45481233	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
9	esv3450392	chr15:45479060-45481133	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45479000-45481000	Active TSS	Ovary	ovary
2	chr15:45479000-45481200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr15:45479200-45480800	Active TSS	Brain Germinal Matrix	brain
4	chr15:45479200-45480800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr15:45479200-45481000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:45479200-45481000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr15:45479400-45480800	Active TSS	Brain Angular Gyrus	brain
8	chr15:45479400-45480800	Active TSS	Brain Cingulate Gyrus	brain
9	chr15:45479400-45480800	Active TSS	Right Ventricle	heart
10	chr15:45479400-45481000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr15:45479400-45481200	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr15:45479400-45481200	Active TSS	Brain Hippocampus Middle	brain
13	chr15:45479400-45481200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:45479600-45480800	Active TSS	Small Intestine	intestine
15	chr15:45480200-45480800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr15:45480200-45480800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:45480200-45480800	Flanking Active TSS	Placenta	Placenta
18	chr15:45480200-45480800	Active TSS	Spleen	Spleen
19	chr15:45480200-45480800	Active TSS	A549	lung
20	chr15:45480200-45480800	Flanking Active TSS	NH-A	brain
21	chr15:45480200-45481000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr15:45480200-45481000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:45480200-45481000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
24	chr15:45480200-45481000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr15:45480200-45481000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:45480200-45481000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr15:45480200-45481000	Flanking Active TSS	Liver	Liver
28	chr15:45480200-45481200	Active TSS	Primary T cells from cord blood	blood
29	chr15:45480200-45481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:45480400-45480800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr15:45480400-45480800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr15:45480400-45480800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:45480400-45480800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:45480400-45480800	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr15:45480400-45481000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr15:45480400-45481000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr15:45480400-45481000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:45480400-45481000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr15:45480400-45481000	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr15:45480400-45481000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:45480400-45481000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr15:45480400-45481000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr15:45480400-45481000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr15:45480400-45481000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin

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