Variant report

Variant	rs142860595
Chromosome Location	chr15:45480949-45480950
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	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	MYC	chr15:45480744-45480991	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:45480086-45481060	GM12892	blood:	n/a	n/a
6	ZNF263	chr15:45480253-45481019	HEK293-T-REx	kidney:	n/a	chr15:45480654-45480663 chr15:45480651-45480660 chr15:45480300-45480309 chr15:45480686-45480695
7	POLR2A	chr15:45480235-45481027	GM12892	blood:	n/a	n/a
8	TCF12	chr15:45480616-45481041	GM12878	blood:	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	RFX5	chr15:45480794-45480957	GM12878	blood:	n/a	n/a
12	EBF1	chr15:45480376-45481102	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
13	POLR2A	chr15:45480200-45480972	GM12891	blood:	n/a	n/a
14	EP300	chr15:45480529-45481064	GM12878	blood:	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	NRF1	chr15:45480772-45481092	GM12878	blood:	n/a	n/a
18	FOXM1	chr15:45480508-45481108	GM12878	blood:	n/a	n/a
19	RELA	chr15:45480708-45481039	GM18505	blood:	n/a	n/a
20	MAX	chr15:45480669-45481040	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr15:45479855-45481070	GM12878	blood:	n/a	n/a
22	EP300	chr15:45480599-45481088	GM12878	blood:	n/a	n/a
23	NFATC1	chr15:45480597-45481065	GM12878	blood:	n/a	n/a
24	TCF12	chr15:45480605-45481002	GM12878	blood:	n/a	n/a
25	RELA	chr15:45480477-45481046	GM19193	blood:	n/a	n/a
26	PAX5	chr15:45480687-45480967	GM12878	blood:	n/a	n/a
27	ELK1	chr15:45480389-45481026	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:45480220-45481151	GM12878	blood:	n/a	n/a
29	TCF3	chr15:45480612-45481051	GM12878	blood:	n/a	chr15:45480869-45480878 chr15:45480866-45480881
30	EBF1	chr15:45480537-45481035	GM12878	blood:	n/a	chr15:45480777-45480787 chr15:45480777-45480788
31	RELA	chr15:45480645-45481058	GM19099	blood:	n/a	n/a
32	USF2	chr15:45480724-45481014	GM12878	blood:	n/a	n/a
33	MAX	chr15:45480757-45480975	K562	blood:	n/a	n/a
34	CHD2	chr15:45480088-45481036	GM12878	blood:	n/a	chr15:45480242-45480252 chr15:45480231-45480241
35	RCOR1	chr15:45480287-45481040	GM12878	blood:	n/a	n/a
36	RUNX3	chr15:45480506-45481041	GM12878	blood:	n/a	n/a
37	POU2F2	chr15:45480140-45481079	GM12878	blood:	n/a	chr15:45480233-45480245 chr15:45480238-45480250
38	MAZ	chr15:45479023-45481127	IMR90	lung:	n/a	chr15:45480427-45480434 chr15:45480239-45480249 chr15:45480425-45480434
39	POLR2A	chr15:45479943-45481057	H1-neurons	neurons:	n/a	n/a
40	EGR1	chr15:45480696-45480962	GM12878	blood:	n/a	chr15:45480854-45480868 chr15:45480915-45480924 chr15:45480911-45480920
41	MAX	chr15:45480356-45481043	H1-hESC	embryonic stem cell:	n/a	chr15:45480427-45480434 chr15:45480425-45480434
42	BACH1	chr15:45480450-45480957	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr15:45480682-45480976	GM12878	blood:	n/a	n/a
44	CUX1	chr15:45480537-45480971	GM12878	blood:	n/a	n/a
45	NFIC	chr15:45480470-45481150	GM12878	blood:	n/a	n/a
46	POU2F2	chr15:45480235-45480959	GM12891	blood:	n/a	chr15:45480238-45480250
47	BCL11A	chr15:45480662-45480952	GM12878	blood:	n/a	n/a
48	RELA	chr15:45480637-45481029	GM18951	blood:	n/a	n/a
49	POLR2A	chr15:45479896-45480997	GM12892	blood:	n/a	n/a
50	SP1	chr15:45480544-45481005	GM12878	blood:	n/a	chr15:45480617-45480624

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45480917-45480967	PFSK-1	brain:	n/a
2	chr15:45480917-45480967	HAEpiC	amniotic membrane:	n/a
3	chr15:45480917-45480967	HIPEpiC	eye:	n/a
4	chr15:45480917-45480967	NHBE	bronchial:	n/a
5	chr15:45480917-45480967	Hela-S3	cervix:	n/a
6	chr15:45480917-45480967	PrEC	prostate:	n/a
7	chr15:45480917-45480967	H1-hESC	embryonic stem cell:	embryo
8	chr15:45480917-45480967	HCPEpiC	choroid plexus:	n/a
9	chr15:45480917-45480967	HCM	heart:	n/a
10	chr15:45480917-45480967	ProgFib	skin:	n/a
11	chr15:45480917-45480967	NB4	blood:	n/a
12	chr15:45480917-45480967	Caco-2	colon:	n/a
13	chr15:45480917-45480967	NHDF-neo	bronchial:	n/a
14	chr15:45480917-45480967	HPAEpiC	pulmonary alveolar:	n/a
15	chr15:45480917-45480967	HEK293	kidney:	embryo
16	chr15:45480917-45480967	ovcar-3	ovarian:	n/a
17	chr15:45480917-45480967	HRCEpiC	kidney:	n/a
18	chr15:45480917-45480967	AG09309	skin:	n/a
19	chr15:45480917-45480967	HMEC	breast:	n/a
20	chr15:45480917-45480967	AG04450	lung:	fetal
21	chr15:45480917-45480967	AG04449	skin:	fetal
22	chr15:45480917-45480967	GM19239	blood:	n/a
23	chr15:45480917-45480967	HCF	heart:	n/a
24	chr15:45480917-45480967	A549	lung:	n/a
25	chr15:45480917-45480967	HUVEC	blood vessel:	n/a
26	chr15:45480917-45480967	GM06990	blood:	n/a
27	chr15:45480917-45480967	RPTEC	kidney:	n/a
28	chr15:45480917-45480967	BE2_C	brain:	n/a
29	chr15:45480917-45480967	ECC-1	luminal epithelium:	n/a
30	chr15:45480917-45480967	GM12892	blood:	n/a
31	chr15:45480917-45480967	MCF-7	breast:	n/a
32	chr15:45480917-45480967	SK-N-SH	brain:	n/a
33	chr15:45480917-45480967	NH-A	brain:	n/a
34	chr15:45480917-45480967	Jurkat	blood:	n/a
35	chr15:45480917-45480967	MCF10A-Er-Src	breast:	n/a
36	chr15:45480917-45480967	AG09319	gingival:	n/a
37	chr15:45480917-45480967	HCT-116	colon:	n/a
38	chr15:45480917-45480967	GM12891	blood:	n/a
39	chr15:45480917-45480967	HEEpiC	esophagus:	n/a
40	chr15:45480917-45480967	T-47D	breast:	n/a
41	chr15:45480917-45480967	Hepatocyte	liver:	n/a
42	chr15:45480917-45480967	GM12878	blood:	n/a
43	chr15:45480917-45480967	HepG2	liver:	n/a
44	chr15:45480917-45480967	SK-N-MC	brain:	n/a
45	chr15:45480917-45480967	AoSMC	blood vessel:	n/a
46	chr15:45480917-45480967	IMR90	lung:	fetal
47	chr15:45480917-45480967	SKMC	muscle:	n/a
48	chr15:45480917-45480967	LNCaP	prostate:	n/a
49	chr15:45480917-45480967	CMK	blood:	n/a
50	chr15:45480917-45480967	HNPCEpiC	eye:	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
SHF	CpG island
ENSG00000138606	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000260035	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:123 , 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	chr15:45479200-45481000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:45479200-45481000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr15:45479400-45481000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:45479400-45481200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr15:45479400-45481200	Active TSS	Brain Hippocampus Middle	brain
8	chr15:45479400-45481200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr15:45480200-45481000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr15:45480200-45481000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr15:45480200-45481000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
12	chr15:45480200-45481000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr15:45480200-45481000	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:45480200-45481000	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr15:45480200-45481000	Flanking Active TSS	Liver	Liver
16	chr15:45480200-45481200	Active TSS	Primary T cells from cord blood	blood
17	chr15:45480200-45481200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:45480400-45481000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr15:45480400-45481000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:45480400-45481000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:45480400-45481000	Flanking Active TSS	Primary B cells from cord blood	blood
24	chr15:45480400-45481000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
26	chr15:45480400-45481000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:45480400-45481000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr15:45480400-45481000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr15:45480400-45481000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
31	chr15:45480400-45481000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:45480400-45481000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:45480400-45481000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr15:45480400-45481000	Flanking Active TSS	Colonic Mucosa	Colon
37	chr15:45480400-45481000	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr15:45480400-45481000	Flanking Active TSS	Esophagus	oesophagus
39	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
40	chr15:45480400-45481000	Flanking Active TSS	Fetal Intestine Large	intestine
41	chr15:45480400-45481000	Flanking Active TSS	Fetal Intestine Small	intestine
42	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
43	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
44	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr15:45480400-45481000	Flanking Active TSS	Pancreas	Pancrea
46	chr15:45480400-45481000	Flanking Active TSS	Psoas Muscle	Psoas
47	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
48	chr15:45480400-45481000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr15:45480400-45481000	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
50	chr15:45480400-45481000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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