Variant report

Variant	rs557383731
Chromosome Location	chr15:41245419-41245420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:324)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:324 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:41245255-41245652	HepG2	liver:	n/a	n/a
2	SP4	chr15:41244862-41246065	H1-hESC	embryonic stem cell:	n/a	chr15:41246045-41246061 chr15:41245611-41245627
3	ZKSCAN1	chr15:41244964-41245876	Hela-S3	cervix:	n/a	n/a
4	JUND	chr15:41245170-41245687	Hela-S3	cervix:	n/a	chr15:41245501-41245510
5	RFX5	chr15:41244826-41246079	SK-N-SH	brain:	n/a	chr15:41245500-41245509
6	CTCF	chr15:41245417-41245777	IMR90	lung:	n/a	n/a
7	POLR2A	chr15:41245224-41245858	K562	blood:	n/a	n/a
8	MAX	chr15:41244849-41246050	A549	lung:	n/a	chr15:41245041-41245050
9	KAP1	chr15:41245207-41245662	U2OS	brain:	n/a	n/a
10	EP300	chr15:41244980-41245986	ECC-1	luminal epithelium:	n/a	chr15:41245598-41245614
11	POLR2A	chr15:41245125-41245872	PFSK-1	brain:	n/a	n/a
12	MYC	chr15:41244811-41245706	H1-hESC	embryonic stem cell:	n/a	chr15:41245041-41245050
13	POLR2A	chr15:41245071-41246101	H1-neurons	neurons:	n/a	n/a
14	EBF1	chr15:41245051-41245841	GM12878	blood:	n/a	n/a
15	GTF2F1	chr15:41244675-41245972	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr15:41244982-41245830	HUVEC	blood vessel:	n/a	n/a
17	CTCF	chr15:41245400-41245550	AG04450	lung:	n/a	n/a
18	REST	chr15:41244829-41246248	H1-neurons	neurons:	n/a	chr15:41245517-41245530 chr15:41245604-41245617 chr15:41245601-41245614
19	TCF7L2	chr15:41244964-41245873	HCT-116	colon:	n/a	n/a
20	CEBPB	chr15:41245163-41245731	K562	blood:	n/a	n/a
21	FOS	chr15:41245391-41245641	MCF10A-Er-Src	breast:	n/a	chr15:41245501-41245510
22	MYC	chr15:41245114-41245739	K562	blood:	n/a	n/a
23	POLR2A	chr15:41244972-41245819	SK-N-SH	brain:	n/a	n/a
24	NFIC	chr15:41244945-41246078	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr15:41244087-41246309	MCF10A-Er-Src	breast:	n/a	n/a
26	PML	chr15:41245405-41245566	GM12878	blood:	n/a	n/a
27	MAX	chr15:41245038-41245800	K562	blood:	n/a	chr15:41245041-41245050
28	POLR2A	chr15:41244687-41246812	H1-hESC	embryonic stem cell:	n/a	n/a
29	FOXP2	chr15:41244864-41246113	PFSK-1	brain:	n/a	n/a
30	TAF7	chr15:41244820-41245496	H1-hESC	embryonic stem cell:	n/a	n/a
31	E2F6	chr15:41244676-41246153	H1-hESC	embryonic stem cell:	n/a	chr15:41245560-41245569 chr15:41244988-41244998 chr15:41245126-41245133 chr15:41245126-41245133 chr15:41245336-41245346 chr15:41245126-41245133
32	ELK1	chr15:41245026-41245837	Hela-S3	cervix:	n/a	n/a
33	RFX5	chr15:41244745-41245828	Hela-S3	cervix:	n/a	chr15:41245500-41245509
34	MAZ	chr15:41244802-41245909	K562	blood:	n/a	chr15:41245041-41245050
35	POLR2A	chr15:41244960-41245966	MCF-7	breast:	n/a	n/a
36	POLR2A	chr15:41244901-41245868	A549	lung:	n/a	n/a
37	POLR2A	chr15:41244822-41246504	PBDE	blood:	n/a	n/a
38	POLR2A	chr15:41244697-41246315	GM19193	blood:	n/a	n/a
39	CEBPB	chr15:41245003-41245771	IMR90	lung:	n/a	n/a
40	POLR2A	chr15:41244452-41246039	SK-N-MC	brain:	n/a	n/a
41	CHD2	chr15:41245382-41245724	K562	blood:	n/a	n/a
42	POLR2A	chr15:41244981-41245961	SK-N-MC	brain:	n/a	n/a
43	PBX3	chr15:41245390-41245890	A549	lung:	n/a	chr15:41245559-41245568 chr15:41245500-41245509
44	POLR2A	chr15:41244700-41245945	MCF-7	breast:	n/a	n/a
45	PBX3	chr15:41245240-41245851	A549	lung:	n/a	chr15:41245559-41245568 chr15:41245500-41245509
46	STAT5A	chr15:41245017-41245497	GM12878	blood:	n/a	n/a
47	EP300	chr15:41245227-41245721	K562	blood:	n/a	chr15:41245598-41245614
48	POLR2A	chr15:41244823-41245521	A549	lung:	n/a	n/a
49	CEBPB	chr15:41245278-41245617	HepG2	liver:	n/a	n/a
50	SMARCC1	chr15:41244649-41246206	Hela-S3	cervix:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:41245418-41245468	MCF-7	breast:	n/a
2	chr15:41245418-41245468	AoSMC	blood vessel:	n/a
3	chr15:41245406-41245456	LNCaP	prostate:	n/a
4	chr15:41245418-41245468	ovcar-3	ovarian:	n/a
5	chr15:41245406-41245456	SK-N-SH	brain:	n/a
6	chr15:41245406-41245456	AoSMC	blood vessel:	n/a
7	chr15:41245418-41245468	GM12878	blood:	n/a
8	chr15:41245406-41245456	HRPEpiC	eye:	n/a
9	chr15:41245406-41245456	RPTEC	kidney:	n/a
10	chr15:41245418-41245468	AG09309	skin:	n/a
11	chr15:41245406-41245456	AG10803	skin:	n/a
12	chr15:41245418-41245468	AG09319	gingival:	n/a
13	chr15:41245406-41245456	SKMC	muscle:	n/a
14	chr15:41245418-41245468	HUVEC	blood vessel:	n/a
15	chr15:41245406-41245456	HAEpiC	amniotic membrane:	n/a
16	chr15:41245406-41245456	PFSK-1	brain:	n/a
17	chr15:41245418-41245468	IMR90	lung:	fetal
18	chr15:41245418-41245468	SKMC	muscle:	n/a
19	chr15:41245406-41245456	HCT-116	colon:	n/a
20	chr15:41245406-41245456	K562	blood:	n/a
21	chr15:41245406-41245456	GM19239	blood:	n/a
22	chr15:41245406-41245456	T-47D	breast:	n/a
23	chr15:41245418-41245468	HepG2	liver:	n/a
24	chr15:41245406-41245456	AG09309	skin:	n/a
25	chr15:41245418-41245468	SK-N-MC	brain:	n/a
26	chr15:41245418-41245468	HCF	heart:	n/a
27	chr15:41245406-41245456	Caco-2	colon:	n/a
28	chr15:41245418-41245468	NHDF-neo	bronchial:	n/a
29	chr15:41245418-41245468	AG10803	skin:	n/a
30	chr15:41245406-41245456	HCF	heart:	n/a
31	chr15:41245418-41245468	PrEC	prostate:	n/a
32	chr15:41245406-41245456	ECC-1	luminal epithelium:	n/a
33	chr15:41245406-41245456	PANC-1	pancreas:	n/a
34	chr15:41245406-41245456	HL-60	blood:	n/a
35	chr15:41245418-41245468	ECC-1	luminal epithelium:	n/a
36	chr15:41245406-41245456	BE2_C	brain:	n/a
37	chr15:41245418-41245468	GM12892	blood:	n/a
38	chr15:41245406-41245456	GM12878	blood:	n/a
39	chr15:41245406-41245456	HepG2	liver:	n/a
40	chr15:41245418-41245468	HRCEpiC	kidney:	n/a
41	chr15:41245406-41245456	HEEpiC	esophagus:	n/a
42	chr15:41245406-41245456	Jurkat	blood:	n/a
43	chr15:41245406-41245456	CMK	blood:	n/a
44	chr15:41245406-41245456	Hepatocyte	liver:	n/a
45	chr15:41245418-41245468	Hela-S3	cervix:	n/a
46	chr15:41245406-41245456	NT2-D1	testis:	n/a
47	chr15:41245406-41245456	HPAEpiC	pulmonary alveolar:	n/a
48	chr15:41245418-41245468	A549	lung:	n/a
49	chr15:41245406-41245456	NHDF-neo	bronchial:	n/a
50	chr15:41245406-41245456	SK-N-MC	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41245148..41245725-chr17:75277480..75278058,2	Hela-S3	cervix:
2	chr15:41243575..41247241-chr15:41275161..41277167,3	MCF-7	breast:
3	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
4	chr15:41244983..41245699-chr17:62222870..62223655,2	Hela-S3	cervix:
5	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
6	chr15:41046641..41048842-chr15:41243931..41246219,2	K562	blood:
7	chr15:41220084..41222525-chr15:41245007..41247668,2	MCF-7	breast:
8	chr15:41219573..41224863-chr15:41243808..41249661,11	MCF-7	breast:

No data

Variant related genes	Relation type
CHAC1	TF binding region
ISCA1P4	TF binding region
ISCA1P4	CpG island
CHAC1	CpG island
ENSG00000128917	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000184640	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000263718	Chromatin interaction
ENSG00000251161	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv1794127	chr15:41245289-41276158	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr15:41244200-41246200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr15:41244400-41246200	Active TSS	A549	lung
3	chr15:41244400-41246600	Active TSS	Brain Angular Gyrus	brain
4	chr15:41244400-41246800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41244400-41246800	Active TSS	Rectal Smooth Muscle	rectum
6	chr15:41244600-41245600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr15:41244600-41246000	Enhancers	Fetal Brain Male	brain
8	chr15:41244600-41246000	Active TSS	Osteobl	bone
9	chr15:41244600-41246200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr15:41244600-41246200	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:41244600-41246200	Active TSS	HSMM	muscle
12	chr15:41244600-41246200	Active TSS	NHLF	lung
13	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:41244600-41246400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:41244600-41246400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr15:41244600-41246400	Flanking Active TSS	Liver	Liver
18	chr15:41244600-41246400	Flanking Active TSS	Colonic Mucosa	Colon
19	chr15:41244600-41246600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr15:41244600-41246800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:41244600-41246800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr15:41244600-41247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:41244800-41246000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:41244800-41246000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr15:41244800-41246000	Flanking Active TSS	Fetal Thymus	thymus
26	chr15:41244800-41246200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr15:41244800-41246200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:41244800-41246200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr15:41244800-41246200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:41244800-41246200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:41244800-41246200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr15:41244800-41246200	Active TSS	Psoas Muscle	Psoas
33	chr15:41244800-41246200	Active TSS	Small Intestine	intestine
34	chr15:41244800-41246400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:41244800-41246400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr15:41244800-41246400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr15:41244800-41246600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr15:41244800-41246600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:41244800-41246600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr15:41244800-41246600	Active TSS	Brain Substantia Nigra	brain
41	chr15:41244800-41246600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr15:41244800-41246600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr15:41244800-41246600	Active TSS	NHDF-Ad	bronchial
44	chr15:41244800-41246800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr15:41245000-41245600	Active TSS	Esophagus	oesophagus
46	chr15:41245000-41245600	Active TSS	Fetal Intestine Large	intestine
47	chr15:41245000-41245600	Bivalent/Poised TSS	HepG2	liver
48	chr15:41245000-41245800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:41245000-41246000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:41245000-41246000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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