Variant report

Variant	rs570382324
Chromosome Location	chr15:45481020-45481021
allele	C/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	POLR2A	chr15:45480086-45481060	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:45480235-45481027	GM12892	blood:	n/a	n/a
3	TCF12	chr15:45480616-45481041	GM12878	blood:	n/a	n/a
4	ATF2	chr15:45480522-45481055	GM12878	blood:	n/a	n/a
5	RELA	chr15:45480632-45481035	GM10847	blood:	n/a	n/a
6	EBF1	chr15:45480376-45481102	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
7	EP300	chr15:45480529-45481064	GM12878	blood:	n/a	n/a
8	MTA3	chr15:45480331-45481062	GM12878	blood:	n/a	n/a
9	NRF1	chr15:45480772-45481092	GM12878	blood:	n/a	n/a
10	FOXM1	chr15:45480508-45481108	GM12878	blood:	n/a	n/a
11	RELA	chr15:45480708-45481039	GM18505	blood:	n/a	n/a
12	MAX	chr15:45480669-45481040	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:45479855-45481070	GM12878	blood:	n/a	n/a
14	EP300	chr15:45480599-45481088	GM12878	blood:	n/a	n/a
15	NFATC1	chr15:45480597-45481065	GM12878	blood:	n/a	n/a
16	RELA	chr15:45480477-45481046	GM19193	blood:	n/a	n/a
17	ELK1	chr15:45480389-45481026	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:45480220-45481151	GM12878	blood:	n/a	n/a
19	TCF3	chr15:45480612-45481051	GM12878	blood:	n/a	chr15:45480869-45480878 chr15:45480866-45480881
20	EBF1	chr15:45480537-45481035	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
21	RELA	chr15:45480645-45481058	GM19099	blood:	n/a	n/a
22	CHD2	chr15:45480088-45481036	GM12878	blood:	n/a	chr15:45480242-45480252 chr15:45480231-45480241
23	RCOR1	chr15:45480287-45481040	GM12878	blood:	n/a	n/a
24	RUNX3	chr15:45480506-45481041	GM12878	blood:	n/a	n/a
25	POU2F2	chr15:45480140-45481079	GM12878	blood:	n/a	chr15:45480233-45480245 chr15:45480238-45480250
26	MAZ	chr15:45479023-45481127	IMR90	lung:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
27	POLR2A	chr15:45479943-45481057	H1-neurons	neurons:	n/a	n/a
28	MAX	chr15:45480356-45481043	H1-hESC	embryonic stem cell:	n/a	chr15:45480427-45480434 chr15:45480425-45480434
29	NFIC	chr15:45480470-45481150	GM12878	blood:	n/a	n/a
30	RELA	chr15:45480637-45481029	GM18951	blood:	n/a	n/a
31	MTA3	chr15:45480222-45481055	GM12878	blood:	n/a	n/a
32	MAX	chr15:45479916-45481070	HepG2	liver:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
33	ATF2	chr15:45480577-45481067	GM12878	blood:	n/a	n/a
34	REST	chr15:45478783-45481200	H1-neurons	neurons:	n/a	n/a
35	MXI1	chr15:45476431-45481208	SK-N-SH	brain:	n/a	n/a
36	BCL11A	chr15:45480592-45481056	GM12878	blood:	n/a	n/a
37	MXI1	chr15:45480280-45481031	GM12878	blood:	n/a	n/a
38	IRF4	chr15:45480497-45481023	GM12878	blood:	n/a	n/a
39	EP300	chr15:45480639-45481073	GM12878	blood:	n/a	n/a
40	STAT5A	chr15:45480297-45481112	GM12878	blood:	n/a	n/a
41	ZEB1	chr15:45480718-45481052	GM12878	blood:	n/a	n/a
42	SP1	chr15:45480573-45481076	GM12878	blood:	n/a	chr15:45480617-45480624
43	FOXM1	chr15:45480510-45481077	GM12878	blood:	n/a	n/a
44	PAX5	chr15:45480506-45481049	GM12878	blood:	n/a	n/a
45	MXI1	chr15:45480018-45481035	HepG2	liver:	n/a	n/a
46	POLR2A	chr15:45480239-45481045	GM12891	blood:	n/a	n/a
47	EP300	chr15:45480574-45481078	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:45480040-45481138	H1-neurons	neurons:	n/a	n/a
49	BHLHE40	chr15:45480313-45481041	GM12878	blood:	n/a	n/a
50	NFIC	chr15:45480560-45481054	GM12878	blood:	n/a	n/a

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

Variant related genes	Relation type
SHF	TF binding region
ENSG00000259539	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000138606	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:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45479000-45481200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:45479400-45481200	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:45479400-45481200	Active TSS	Brain Hippocampus Middle	brain
4	chr15:45479400-45481200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:45480200-45481200	Active TSS	Primary T cells from cord blood	blood
6	chr15:45480200-45481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45480400-45481200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:45480400-45481200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr15:45480400-45481200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr15:45480400-45481200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:45480400-45481200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
12	chr15:45480400-45481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:45480400-45481200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr15:45480400-45481200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
15	chr15:45480400-45481200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
16	chr15:45480600-45481200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr15:45480600-45481200	Flanking Active TSS	Fetal Brain Female	brain
18	chr15:45480800-45481200	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr15:45480800-45481200	Bivalent Enhancer	Placenta	Placenta
20	chr15:45480800-45481200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:45481000-45481200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr15:45481000-45481200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:45481000-45481200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:45481000-45481200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:45481000-45481200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:45481000-45481200	Enhancers	Primary B cells from peripheral blood	blood
27	chr15:45481000-45481200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr15:45481000-45481200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr15:45481000-45481200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr15:45481000-45481200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr15:45481000-45481200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr15:45481000-45481200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:45481000-45481200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr15:45481000-45481200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr15:45481000-45481200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
36	chr15:45481000-45481200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:45481000-45481200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:45481000-45481200	Enhancers	Adipose Nuclei	Adipose
39	chr15:45481000-45481200	Active TSS	Brain Anterior Caudate	brain
40	chr15:45481000-45481200	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:45481000-45481200	Enhancers	Duodenum Mucosa	Duodenum
42	chr15:45481000-45481200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr15:45481000-45481200	Enhancers	Fetal Brain Male	brain
44	chr15:45481000-45481200	Enhancers	Fetal Heart	heart
45	chr15:45481000-45481200	Enhancers	Fetal Intestine Small	intestine
46	chr15:45481000-45481200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr15:45481000-45481200	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr15:45481000-45481200	Bivalent Enhancer	Fetal Stomach	stomach
49	chr15:45481000-45481200	Enhancers	Pancreas	Pancrea
50	chr15:45481000-45481200	Active TSS	Rectal Smooth Muscle	rectum

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