Variant report

Variant	rs530350356
Chromosome Location	chr4:15940075-15940076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr4:15939804-15940200	MCF10A-Er-Src	breast:	n/a	n/a
2	SMC3	chr4:15939735-15940221	Hela-S3	cervix:	n/a	chr4:15939769-15939779
3	MAX	chr4:15939635-15940382	ECC-1	luminal epithelium:	n/a	n/a
4	STAT3	chr4:15939898-15940153	MCF10A-Er-Src	breast:	n/a	chr4:15940080-15940091
5	CEBPB	chr4:15939879-15940190	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr4:15940007-15940200	MCF10A-Er-Src	breast:	n/a	chr4:15940080-15940091
7	FOS	chr4:15939984-15940184	MCF10A-Er-Src	breast:	n/a	n/a
8	TEAD4	chr4:15939565-15940334	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr4:15939809-15940148	HCT-116	colon:	n/a	n/a
10	PRDM1	chr4:15939918-15940282	Hela-S3	cervix:	n/a	chr4:15940080-15940095 chr4:15940085-15940094
11	FOS	chr4:15939889-15940075	MCF10A-Er-Src	breast:	n/a	n/a
12	NFIC	chr4:15939701-15940436	ECC-1	luminal epithelium:	n/a	n/a
13	MYC	chr4:15939798-15940218	MCF10A-Er-Src	breast:	n/a	n/a
14	MAZ	chr4:15939880-15940096	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr4:15939712-15940305	ECC-1	luminal epithelium:	n/a	n/a
16	SP1	chr4:15939763-15940429	HCT-116	colon:	n/a	chr4:15940054-15940064 chr4:15940054-15940064
17	STAT3	chr4:15939900-15940201	MCF10A-Er-Src	breast:	n/a	chr4:15940080-15940091
18	POLR2A	chr4:15939734-15940196	HCT-116	colon:	n/a	n/a
19	MYC	chr4:15939855-15940209	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF143	chr4:15939948-15940183	H1-hESC	embryonic stem cell:	n/a	n/a
21	EP300	chr4:15939569-15940619	ECC-1	luminal epithelium:	n/a	chr4:15940557-15940571
22	STAT3	chr4:15939966-15940245	MCF10A-Er-Src	breast:	n/a	chr4:15940080-15940091
23	POLR2A	chr4:15934291-15944634	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr4:15939889-15940204	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr4:15940060-15940210	HEEpiC	esophagus:	n/a	n/a
26	TCF7L2	chr4:15939795-15940203	Hela-S3	cervix:	n/a	n/a
27	TCF12	chr4:15939531-15940459	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr4:15939699-15940347	ECC-1	luminal epithelium:	n/a	n/a
29	NFIC	chr4:15939667-15940481	ECC-1	luminal epithelium:	n/a	n/a
30	TCF12	chr4:15939620-15940348	ECC-1	luminal epithelium:	n/a	n/a
31	MAX	chr4:15939610-15940442	HCT-116	colon:	n/a	n/a
32	POLR2A	chr4:15939052-15940305	MCF10A-Er-Src	breast:	n/a	n/a
33	MXI1	chr4:15939916-15940187	Hela-S3	cervix:	n/a	n/a
34	TBP	chr4:15939877-15940097	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:15940058-15940108	HNPCEpiC	eye:	n/a
2	chr4:15940033-15940083	HNPCEpiC	eye:	n/a
3	chr4:15940058-15940108	HCM	heart:	n/a
4	chr4:15940033-15940083	AG09319	gingival:	n/a
5	chr4:15940058-15940108	HCF	heart:	n/a
6	chr4:15940033-15940083	AoSMC	blood vessel:	n/a
7	chr4:15940058-15940108	HepG2	liver:	n/a
8	chr4:15940033-15940083	HCF	heart:	n/a
9	chr4:15940033-15940083	Hepatocyte	liver:	n/a
10	chr4:15940033-15940083	AG10803	skin:	n/a
11	chr4:15940033-15940083	HCT-116	colon:	n/a
12	chr4:15940033-15940083	NT2-D1	testis:	n/a
13	chr4:15940058-15940108	NHDF-neo	bronchial:	n/a
14	chr4:15940058-15940108	U87	brain:	n/a
15	chr4:15940058-15940108	Hepatocyte	liver:	n/a
16	chr4:15940058-15940108	HCPEpiC	choroid plexus:	n/a
17	chr4:15940033-15940083	NB4	blood:	n/a
18	chr4:15940058-15940108	AG09309	skin:	n/a
19	chr4:15940058-15940108	HIPEpiC	eye:	n/a
20	chr4:15940033-15940083	HRE	kidney:	n/a
21	chr4:15940033-15940083	Hela-S3	cervix:	n/a
22	chr4:15940033-15940083	CMK	blood:	n/a
23	chr4:15940033-15940083	BJ	skin:	n/a
24	chr4:15940058-15940108	MCF10A-Er-Src	breast:	n/a
25	chr4:15940033-15940083	ProgFib	skin:	n/a
26	chr4:15940058-15940108	AoSMC	blood vessel:	n/a
27	chr4:15940033-15940083	NHBE	bronchial:	n/a
28	chr4:15940033-15940083	GM12891	blood:	n/a
29	chr4:15940058-15940108	MCF-7	breast:	n/a
30	chr4:15940033-15940083	HCPEpiC	choroid plexus:	n/a
31	chr4:15940058-15940108	IMR90	lung:	fetal
32	chr4:15940033-15940083	AG04449	skin:	fetal
33	chr4:15940058-15940108	ECC-1	luminal epithelium:	n/a
34	chr4:15940058-15940108	LNCaP	prostate:	n/a
35	chr4:15940058-15940108	HMEC	breast:	n/a
36	chr4:15940033-15940083	GM12878	blood:	n/a
37	chr4:15940033-15940083	HEEpiC	esophagus:	n/a
38	chr4:15940058-15940108	SK-N-SH	brain:	n/a
39	chr4:15940058-15940108	NH-A	brain:	n/a
40	chr4:15940033-15940083	ECC-1	luminal epithelium:	n/a
41	chr4:15940058-15940108	Hela-S3	cervix:	n/a
42	chr4:15940058-15940108	BJ	skin:	n/a
43	chr4:15940058-15940108	GM12878	blood:	n/a
44	chr4:15940058-15940108	H1-hESC	embryonic stem cell:	embryo
45	chr4:15940058-15940108	T-47D	breast:	n/a
46	chr4:15940058-15940108	SK-N-SH_RA	brain:	n/a
47	chr4:15940033-15940083	T-47D	breast:	n/a
48	chr4:15940033-15940083	GM12892	blood:	n/a
49	chr4:15940058-15940108	GM12891	blood:	n/a
50	chr4:15940058-15940108	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
FGFBP1	TF binding region
FGFBP1	CpG island

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	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv916742	chr4:15797994-16064232	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv878715	chr4:15840839-15947493	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv878716	chr4:15911031-15947493	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
5	nsv878717	chr4:15920423-15950731	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv593769	chr4:15921471-15943140	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv878718	chr4:15925170-15947493	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a
8	nsv878719	chr4:15930961-15947493	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	n/a
9	esv3357658	chr4:15940054-15944352	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15938200-15940200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:15938200-15941600	Weak transcription	Right Atrium	heart
3	chr4:15939200-15940400	Enhancers	Stomach Mucosa	stomach
4	chr4:15939600-15940200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:15939600-15940200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr4:15939600-15940400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:15939600-15940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:15939600-15940400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:15939600-15940600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:15939800-15940200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr4:15939800-15940200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:15939800-15940200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:15939800-15940200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:15939800-15940200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:15939800-15940200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:15939800-15940200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:15939800-15940200	Enhancers	Lung	lung
18	chr4:15939800-15940200	Enhancers	Pancreas	Pancrea
19	chr4:15939800-15940200	Flanking Active TSS	A549	lung
20	chr4:15939800-15940400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:15939800-15940400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:15939800-15940400	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:15939800-15941000	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr4:15939800-15941000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr4:15940000-15940200	Bivalent Enhancer	Small Intestine	intestine
26	chr4:15940000-15940400	Enhancers	Colonic Mucosa	Colon
27	chr4:15940000-15940400	Enhancers	Fetal Intestine Large	intestine
28	chr4:15940000-15940400	Flanking Active TSS	HMEC	breast
29	chr4:15940000-15940600	Enhancers	Hela-S3	cervix
30	chr4:15940000-15940800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:15940000-15941000	Flanking Active TSS	NHEK	skin
32	chr4:15940000-15950600	Weak transcription	Esophagus	oesophagus

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