Variant report

Variant	rs547878467
Chromosome Location	chr4:152584522-152584523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:152584522-152584572	MCF10A-Er-Src	breast:	n/a
2	chr4:152584522-152584572	CMK	blood:	n/a
3	chr4:152584522-152584572	HepG2	liver:	n/a
4	chr4:152584522-152584572	HCF	heart:	n/a
5	chr4:152584522-152584572	NH-A	brain:	n/a
6	chr4:152584522-152584572	AG04450	lung:	fetal
7	chr4:152584522-152584572	MCF-7	breast:	n/a
8	chr4:152584522-152584572	HMEC	breast:	n/a
9	chr4:152584522-152584572	ECC-1	luminal epithelium:	n/a
10	chr4:152584522-152584572	NHDF-neo	bronchial:	n/a
11	chr4:152584522-152584572	HIPEpiC	eye:	n/a
12	chr4:152584522-152584572	H1-hESC	embryonic stem cell:	embryo
13	chr4:152584522-152584572	PANC-1	pancreas:	n/a
14	chr4:152584522-152584572	SAEC	small airway:	n/a
15	chr4:152584522-152584572	Hepatocyte	liver:	n/a
16	chr4:152584522-152584572	HCM	heart:	n/a
17	chr4:152584522-152584572	NB4	blood:	n/a
18	chr4:152584522-152584572	SK-N-MC	brain:	n/a
19	chr4:152584522-152584572	AG09309	skin:	n/a
20	chr4:152584522-152584572	HUVEC	blood vessel:	n/a
21	chr4:152584522-152584572	GM06990	blood:	n/a
22	chr4:152584522-152584572	HRCEpiC	kidney:	n/a
23	chr4:152584522-152584572	IMR90	lung:	fetal
24	chr4:152584522-152584572	RPTEC	kidney:	n/a
25	chr4:152584522-152584572	GM12878	blood:	n/a
26	chr4:152584522-152584572	GM19239	blood:	n/a
27	chr4:152584522-152584572	U87	brain:	n/a
28	chr4:152584522-152584572	LNCaP	prostate:	n/a
29	chr4:152584522-152584572	PrEC	prostate:	n/a
30	chr4:152584522-152584572	HPAEpiC	pulmonary alveolar:	n/a
31	chr4:152584522-152584572	AoSMC	blood vessel:	n/a
32	chr4:152584522-152584572	A549	lung:	n/a
33	chr4:152584522-152584572	BE2_C	brain:	n/a
34	chr4:152584522-152584572	HCT-116	colon:	n/a
35	chr4:152584522-152584572	Hela-S3	cervix:	n/a
36	chr4:152584522-152584572	HNPCEpiC	eye:	n/a
37	chr4:152584522-152584572	HEEpiC	esophagus:	n/a
38	chr4:152584522-152584572	HAEpiC	amniotic membrane:	n/a
39	chr4:152584522-152584572	PFSK-1	brain:	n/a
40	chr4:152584522-152584572	AG09319	gingival:	n/a
41	chr4:152584522-152584572	GM12892	blood:	n/a
42	chr4:152584522-152584572	T-47D	breast:	n/a
43	chr4:152584522-152584572	NHBE	bronchial:	n/a
44	chr4:152584522-152584572	ovcar-3	ovarian:	n/a
45	chr4:152584522-152584572	HRE	kidney:	n/a
46	chr4:152584522-152584572	AG04449	skin:	fetal
47	chr4:152584522-152584572	Caco-2	colon:	n/a
48	chr4:152584522-152584572	GM12891	blood:	n/a
49	chr4:152584522-152584572	NT2-D1	testis:	n/a
50	chr4:152584522-152584572	K562	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000251603	CpG island

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755535	chr4:152549395-152609395	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv4551	chr4:152582617-152627367	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152563800-152625200	Weak transcription	Hela-S3	cervix
2	chr4:152564200-152595200	Weak transcription	Aorta	Aorta
3	chr4:152567400-152608600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:152567800-152609000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:152571600-152595000	Weak transcription	HepG2	liver
6	chr4:152577200-152585000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:152578400-152595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:152579200-152597400	Weak transcription	Liver	Liver
9	chr4:152579600-152585000	Weak transcription	Gastric	stomach
10	chr4:152579600-152587600	Weak transcription	NHEK	skin
11	chr4:152579600-152592200	Weak transcription	Right Ventricle	heart
12	chr4:152579800-152585000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:152579800-152592800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:152580000-152595200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:152580200-152596000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr4:152580800-152595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:152580800-152596800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:152581000-152592000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:152581200-152587600	Weak transcription	Dnd41	blood
20	chr4:152581200-152602800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:152581200-152608400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:152581400-152585000	Weak transcription	Fetal Thymus	thymus
23	chr4:152581400-152585000	Weak transcription	HSMMtube	muscle
24	chr4:152581400-152587600	Weak transcription	Fetal Muscle Leg	muscle
25	chr4:152581600-152595000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:152581800-152586600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:152581800-152595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr4:152582400-152588000	Weak transcription	Psoas Muscle	Psoas
29	chr4:152582400-152588200	Weak transcription	Fetal Kidney	kidney
30	chr4:152582400-152592600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:152582400-152595000	Weak transcription	Lung	lung
32	chr4:152582400-152595800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:152583000-152588000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:152583000-152591800	Weak transcription	Adipose Nuclei	Adipose
35	chr4:152583200-152584600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr4:152583200-152584800	Strong transcription	Fetal Intestine Large	intestine
37	chr4:152583200-152585800	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:152583200-152586000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:152583200-152586600	Weak transcription	Fetal Heart	heart
40	chr4:152583200-152586800	Strong transcription	Pancreas	Pancrea
41	chr4:152583200-152587200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:152583200-152588800	Weak transcription	Right Atrium	heart
43	chr4:152583200-152596000	Weak transcription	Spleen	Spleen
44	chr4:152583400-152585400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr4:152583400-152585600	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr4:152583400-152585800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr4:152583400-152585800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:152583400-152585800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr4:152583400-152585800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr4:152583400-152586400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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