Variant report

Variant	rs545520387
Chromosome Location	chr15:41245992-41245993
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	SP4	chr15:41244862-41246065	H1-hESC	embryonic stem cell:	n/a	chr15:41246045-41246061 chr15:41245611-41245627
2	RFX5	chr15:41244826-41246079	SK-N-SH	brain:	n/a	chr15:41245500-41245509
3	MAX	chr15:41244849-41246050	A549	lung:	n/a	chr15:41245041-41245050
4	POLR2A	chr15:41245071-41246101	H1-neurons	neurons:	n/a	n/a
5	REST	chr15:41244829-41246248	H1-neurons	neurons:	n/a	chr15:41245517-41245530 chr15:41245604-41245617 chr15:41245601-41245614
6	NFIC	chr15:41244945-41246078	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr15:41244087-41246309	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr15:41244687-41246812	H1-hESC	embryonic stem cell:	n/a	n/a
9	FOXP2	chr15:41244864-41246113	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr15:41245557-41246001	A549	lung:	n/a	n/a
11	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
12	POLR2A	chr15:41244822-41246504	PBDE	blood:	n/a	n/a
13	POLR2A	chr15:41244697-41246315	GM19193	blood:	n/a	n/a
14	POLR2A	chr15:41244452-41246039	SK-N-MC	brain:	n/a	n/a
15	SMARCC1	chr15:41244649-41246206	Hela-S3	cervix:	n/a	n/a
16	TBP	chr15:41244635-41246113	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:41245588-41246018	A549	lung:	n/a	n/a
18	POLR2A	chr15:41244732-41246033	U87	brain:	n/a	n/a
19	POLR2A	chr15:41244660-41246865	PFSK-1	brain:	n/a	n/a
20	CEBPB	chr15:41244867-41245996	HCT-116	colon:	n/a	n/a
21	SMARCB1	chr15:41244539-41246091	Hela-S3	cervix:	n/a	n/a
22	MAZ	chr15:41244832-41246688	IMR90	lung:	n/a	chr15:41245041-41245050
23	TEAD4	chr15:41245288-41246211	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr15:41244905-41246099	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr15:41244897-41246577	GM18505	blood:	n/a	n/a
26	TAF7	chr15:41244765-41246828	H1-hESC	embryonic stem cell:	n/a	n/a
27	PAX5	chr15:41245351-41246174	GM12878	blood:	n/a	chr15:41246015-41246032 chr15:41246013-41246031 chr15:41245509-41245518
28	POLR2A	chr15:41244495-41246332	GM12892	blood:	n/a	n/a
29	POLR2A	chr15:41244585-41246933	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:41244621-41246297	MCF-7	breast:	n/a	n/a
31	POLR2A	chr15:41244452-41246146	HCT-116	colon:	n/a	n/a
32	PAX5	chr15:41245429-41246099	GM12878	blood:	n/a	chr15:41246015-41246032 chr15:41246013-41246031 chr15:41245509-41245518
33	POLR2A	chr15:41244764-41246290	HCT-116	colon:	n/a	n/a
34	SIN3AK20	chr15:41244959-41246102	MCF-7	breast:	n/a	n/a
35	ZBTB7A	chr15:41244783-41246145	ECC-1	luminal epithelium:	n/a	n/a
36	SIN3A	chr15:41244716-41246763	H1-hESC	embryonic stem cell:	n/a	chr15:41245601-41245614
37	MXI1	chr15:41244726-41246877	IMR90	lung:	n/a	n/a
38	CHD1	chr15:41245664-41246716	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr15:41245016-41246035	IMR90	lung:	n/a	n/a
40	TAF1	chr15:41244759-41246291	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr15:41244694-41246002	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr15:41244904-41246020	GM12878	blood:	n/a	n/a
43	TCF12	chr15:41244912-41246178	ECC-1	luminal epithelium:	n/a	chr15:41245336-41245346 chr15:41245035-41245045 chr15:41246075-41246083 chr15:41244946-41244953 chr15:41245602-41245609
44	MTA3	chr15:41245591-41245999	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:41244919-41246138	IMR90	lung:	n/a	n/a
46	MXI1	chr15:41244769-41246805	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr15:41244626-41246230	GM15510	blood:	n/a	n/a
48	PAX5	chr15:41245454-41246151	GM12878	blood:	n/a	chr15:41246015-41246032 chr15:41246013-41246031 chr15:41245509-41245518
49	POLR2A	chr15:41244450-41246102	ECC-1	luminal epithelium:	n/a	n/a
50	SIN3AK20	chr15:41245518-41246360	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41243575..41247241-chr15:41275161..41277167,3	MCF-7	breast:
2	chr15:41245565..41247610-chr15:41522080..41523844,2	K562	blood:
3	chr15:41219948..41223850-chr15:41241031..41249080,13	K562	blood:
4	chr15:41196932..41200984-chr15:41244050..41248455,6	K562	blood:
5	chr15:41046641..41048842-chr15:41243931..41246219,2	K562	blood:
6	chr15:41220084..41222525-chr15:41245007..41247668,2	MCF-7	breast:
7	chr15:41219573..41224863-chr15:41243808..41249661,11	MCF-7	breast:

Variant related genes	Relation type
CHAC1	TF binding region
ISCA1P4	TF binding region
ENSG00000137824	Chromatin interaction
ENSG00000187446	Chromatin interaction
ENSG00000178997	Chromatin interaction
ENSG00000128908	Chromatin interaction
ENSG00000251161	Chromatin interaction
ENSG00000128917	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:126 , 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	chr15:41244600-41246000	Enhancers	Fetal Brain Male	brain
7	chr15:41244600-41246000	Active TSS	Osteobl	bone
8	chr15:41244600-41246200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr15:41244600-41246200	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr15:41244600-41246200	Active TSS	HSMM	muscle
11	chr15:41244600-41246200	Active TSS	NHLF	lung
12	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:41244600-41246400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:41244600-41246400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:41244600-41246400	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr15:41244600-41246400	Flanking Active TSS	Liver	Liver
17	chr15:41244600-41246400	Flanking Active TSS	Colonic Mucosa	Colon
18	chr15:41244600-41246600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:41244600-41246800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr15:41244600-41246800	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr15:41244600-41247200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:41244800-41246000	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr15:41244800-41246000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:41244800-41246000	Flanking Active TSS	Fetal Thymus	thymus
25	chr15:41244800-41246200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr15:41244800-41246200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:41244800-41246200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr15:41244800-41246200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:41244800-41246200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:41244800-41246200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:41244800-41246200	Active TSS	Psoas Muscle	Psoas
32	chr15:41244800-41246200	Active TSS	Small Intestine	intestine
33	chr15:41244800-41246400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:41244800-41246400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:41244800-41246400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr15:41244800-41246600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr15:41244800-41246600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:41244800-41246600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr15:41244800-41246600	Active TSS	Brain Substantia Nigra	brain
40	chr15:41244800-41246600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr15:41244800-41246600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr15:41244800-41246600	Active TSS	NHDF-Ad	bronchial
43	chr15:41244800-41246800	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr15:41245000-41246000	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr15:41245000-41246000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr15:41245000-41246000	Active TSS	Fetal Kidney	kidney
47	chr15:41245000-41246200	Active TSS	H1 Cell Line	embryonic stem cell
48	chr15:41245000-41246200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:41245000-41246200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:41245000-41246200	Active TSS	Colon Smooth Muscle	Colon

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