Variant report

Variant	rs546186899
Chromosome Location	chr4:130014809-130014810
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:423)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr4:130014508-130014985	HepG2	liver:	n/a	n/a
2	CEBPD	chr4:130014578-130014895	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:130014275-130015087	Gliobla	brain:	n/a	n/a
4	MXI1	chr4:130012946-130016268	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr4:130014288-130014979	HUVEC	blood vessel:	n/a	n/a
6	BRCA1	chr4:130014380-130014906	H1-hESC	embryonic stem cell:	n/a	n/a
7	SPI1	chr4:130014350-130014914	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:130014165-130015091	GM12878	blood:	n/a	n/a
9	FOS	chr4:130014596-130014942	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr4:130014362-130015083	ProgFib	skin:	n/a	n/a
11	POLR2A	chr4:130013816-130015128	GM19099	blood:	n/a	n/a
12	SIN3A	chr4:130014099-130015151	GM12878	blood:	n/a	chr4:130014674-130014687
13	POLR2A	chr4:130014302-130015026	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr4:130014245-130015106	NB4	blood:	n/a	n/a
15	POLR2A	chr4:130014164-130015109	MCF10A-Er-Src	breast:	n/a	n/a
16	RCOR1	chr4:130013827-130015269	K562	blood:	n/a	n/a
17	FOXM1	chr4:130014122-130015272	ECC-1	luminal epithelium:	n/a	n/a
18	STAT3	chr4:130014636-130014840	MCF10A-Er-Src	breast:	n/a	n/a
19	RCOR1	chr4:130013701-130015157	Hela-S3	cervix:	n/a	n/a
20	NFYB	chr4:130014560-130015280	K562	blood:	n/a	n/a
21	POLR2A	chr4:130014369-130014937	A549	lung:	n/a	n/a
22	SP4	chr4:130014281-130014857	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAX	chr4:130014170-130015120	MCF-7	breast:	n/a	n/a
24	FOXM1	chr4:130014014-130015358	ECC-1	luminal epithelium:	n/a	n/a
25	ATF3	chr4:130014505-130014936	A549	lung:	n/a	n/a
26	USF1	chr4:130014666-130014897	SK-N-SH_RA	brain:	n/a	n/a
27	SMC3	chr4:130014610-130015087	HepG2	liver:	n/a	n/a
28	PAX5	chr4:130014313-130014822	GM12891	blood:	n/a	n/a
29	SPI1	chr4:130014437-130014875	HL-60	blood:	n/a	n/a
30	EBF1	chr4:130013910-130015276	GM12878	blood:	n/a	n/a
31	TAF1	chr4:130014147-130015107	ECC-1	luminal epithelium:	n/a	n/a
32	TAF1	chr4:130014300-130014849	H1-hESC	embryonic stem cell:	n/a	n/a
33	BCLAF1	chr4:130014313-130014987	K562	blood:	n/a	chr4:130014626-130014639 chr4:130014891-130014900 chr4:130014631-130014640
34	POLR2A	chr4:130014398-130015040	HUVEC	blood vessel:	n/a	n/a
35	YY1	chr4:130014281-130014968	K562	blood:	n/a	n/a
36	GTF2F1	chr4:130014375-130015257	Hela-S3	cervix:	n/a	n/a
37	YY1	chr4:130014100-130014865	GM12878	blood:	n/a	chr4:130014210-130014219
38	POLR2A	chr4:130014291-130015043	ECC-1	luminal epithelium:	n/a	n/a
39	FOXM1	chr4:130014002-130015194	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr4:130014098-130015074	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr4:130014079-130015126	GM19193	blood:	n/a	n/a
42	MYC	chr4:130014176-130014941	H1-hESC	embryonic stem cell:	n/a	n/a
43	STAT3	chr4:130014619-130014819	MCF10A-Er-Src	breast:	n/a	n/a
44	STAT1	chr4:130014266-130015169	GM12878	blood:	n/a	n/a
45	HEY1	chr4:130014255-130014922	K562	blood:	n/a	n/a
46	CREB1	chr4:130014434-130015086	ECC-1	luminal epithelium:	n/a	n/a
47	JUND	chr4:130014231-130015085	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr4:130011739-130015326	IMR90	lung:	n/a	n/a
49	HMGN3	chr4:130014326-130014906	K562	blood:	n/a	n/a
50	TBL1XR1	chr4:130014386-130015499	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:130014800-130014850	HAEpiC	amniotic membrane:	n/a
2	chr4:130014778-130014828	RPTEC	kidney:	n/a
3	chr4:130014800-130014850	AoSMC	blood vessel:	n/a
4	chr4:130014778-130014828	PFSK-1	brain:	n/a
5	chr4:130014800-130014850	GM19239	blood:	n/a
6	chr4:130014800-130014850	IMR90	lung:	fetal
7	chr4:130014778-130014828	NT2-D1	testis:	n/a
8	chr4:130014778-130014828	HL-60	blood:	n/a
9	chr4:130014778-130014828	SKMC	muscle:	n/a
10	chr4:130014778-130014828	AG10803	skin:	n/a
11	chr4:130014800-130014850	SAEC	small airway:	n/a
12	chr4:130014800-130014850	MCF10A-Er-Src	breast:	n/a
13	chr4:130014800-130014850	SK-N-SH_RA	brain:	n/a
14	chr4:130014778-130014828	GM12878	blood:	n/a
15	chr4:130014778-130014828	LNCaP	prostate:	n/a
16	chr4:130014800-130014850	T-47D	breast:	n/a
17	chr4:130014778-130014828	AG09319	gingival:	n/a
18	chr4:130014800-130014850	U87	brain:	n/a
19	chr4:130014778-130014828	HRCEpiC	kidney:	n/a
20	chr4:130014800-130014850	SK-N-MC	brain:	n/a
21	chr4:130014800-130014850	ProgFib	skin:	n/a
22	chr4:130014778-130014828	K562	blood:	n/a
23	chr4:130014800-130014850	ECC-1	luminal epithelium:	n/a
24	chr4:130014778-130014828	SK-N-SH_RA	brain:	n/a
25	chr4:130014800-130014850	HEK293	kidney:	embryo
26	chr4:130014778-130014828	BJ	skin:	n/a
27	chr4:130014800-130014850	HRCEpiC	kidney:	n/a
28	chr4:130014778-130014828	NH-A	brain:	n/a
29	chr4:130014778-130014828	H1-hESC	embryonic stem cell:	embryo
30	chr4:130014778-130014828	HEK293	kidney:	embryo
31	chr4:130014800-130014850	NB4	blood:	n/a
32	chr4:130014800-130014850	NHDF-neo	bronchial:	n/a
33	chr4:130014778-130014828	GM19239	blood:	n/a
34	chr4:130014800-130014850	LNCaP	prostate:	n/a
35	chr4:130014800-130014850	PFSK-1	brain:	n/a
36	chr4:130014800-130014850	SK-N-SH	brain:	n/a
37	chr4:130014778-130014828	MCF10A-Er-Src	breast:	n/a
38	chr4:130014800-130014850	Hela-S3	cervix:	n/a
39	chr4:130014800-130014850	SKMC	muscle:	n/a
40	chr4:130014800-130014850	NHBE	bronchial:	n/a
41	chr4:130014778-130014828	SAEC	small airway:	n/a
42	chr4:130014778-130014828	BE2_C	brain:	n/a
43	chr4:130014778-130014828	MCF-7	breast:	n/a
44	chr4:130014778-130014828	CMK	blood:	n/a
45	chr4:130014778-130014828	AoSMC	blood vessel:	n/a
46	chr4:130014800-130014850	HMEC	breast:	n/a
47	chr4:130014800-130014850	NH-A	brain:	n/a
48	chr4:130014778-130014828	Hela-S3	cervix:	n/a
49	chr4:130014800-130014850	Caco-2	colon:	n/a
50	chr4:130014800-130014850	Hepatocyte	liver:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:160231636..160232491-chr4:130014484..130015051,2	Hela-S3	cervix:
2	chr3:57741752..57742372-chr4:130014273..130014863,2	HCT-116	colon:
3	chr4:128703531..128705249-chr4:130014655..130017577,2	K562	blood:
4	chr1:113161412..113162381-chr4:130014290..130014835,2	Hela-S3	cervix:
5	chr4:130012621..130015537-chr4:130015842..130017627,2	K562	blood:
6	chr4:129730340..129733748-chr4:130013373..130016609,5	K562	blood:

No data

Variant related genes	Relation type
C4orf33	TF binding region
SCLT1	TF binding region
C4orf33	CpG island
SCLT1	CpG island
ENSG00000132716	Chromatin interaction
ENSG00000164070	Chromatin interaction
ENSG00000077684	Chromatin interaction
ENSG00000151470	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000163681	Chromatin interaction
ENSG00000116489	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv822718	chr4:130014371-130014826	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 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	chr4:130011200-130016000	Active TSS	NHLF	lung
2	chr4:130011200-130016400	Active TSS	GM12878-XiMat	blood
3	chr4:130012000-130015000	Active TSS	NHDF-Ad	bronchial
4	chr4:130012200-130015400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:130012200-130015400	Active TSS	A549	lung
6	chr4:130012400-130015800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:130012600-130015800	Active TSS	Brain Hippocampus Middle	brain
8	chr4:130012800-130015400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:130012800-130015400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:130012800-130015400	Active TSS	Fetal Muscle Trunk	muscle
11	chr4:130012800-130015400	Active TSS	HMEC	breast
12	chr4:130012800-130015600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:130012800-130018600	Active TSS	K562	blood
14	chr4:130013000-130015000	Active TSS	Rectal Smooth Muscle	rectum
15	chr4:130013000-130015000	Active TSS	Hela-S3	cervix
16	chr4:130013000-130015200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr4:130013000-130015200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr4:130013000-130015400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:130013000-130015400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:130013000-130015400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:130013000-130015400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:130013200-130015000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:130013200-130015200	Active TSS	Esophagus	oesophagus
24	chr4:130013200-130015200	Active TSS	Fetal Kidney	kidney
25	chr4:130013200-130015400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:130013200-130015400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr4:130013200-130015400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:130013200-130015400	Active TSS	Aorta	Aorta
29	chr4:130013200-130015400	Active TSS	Brain Cingulate Gyrus	brain
30	chr4:130013200-130015400	Active TSS	Colon Smooth Muscle	Colon
31	chr4:130013200-130015400	Active TSS	Fetal Stomach	stomach
32	chr4:130013200-130015600	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr4:130013400-130015200	Active TSS	H1 Cell Line	embryonic stem cell
34	chr4:130013400-130015200	Active TSS	Placenta	Placenta
35	chr4:130013400-130015200	Active TSS	Pancreas	Pancrea
36	chr4:130013400-130015200	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr4:130013400-130015200	Active TSS	HSMMtube	muscle
38	chr4:130013400-130015400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:130013400-130015400	Active TSS	Colonic Mucosa	Colon
40	chr4:130013400-130015400	Active TSS	Fetal Intestine Large	intestine
41	chr4:130013400-130015400	Active TSS	Psoas Muscle	Psoas
42	chr4:130013400-130015400	Active TSS	Right Atrium	heart
43	chr4:130013400-130015400	Active TSS	Right Ventricle	heart
44	chr4:130013400-130015400	Active TSS	Thymus	Thymus
45	chr4:130013400-130015600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:130013400-130015600	Active TSS	Fetal Muscle Leg	muscle
47	chr4:130013400-130015800	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:130013600-130015000	Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr4:130013600-130015000	Active TSS	Fetal Lung	lung
50	chr4:130013600-130015000	Active TSS	Stomach Smooth Muscle	stomach

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