Variant report

Variant	nsv244613
Chromosome Location	chr4:48485250-48485251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CCNT2	chr4:48485129-48486088	K562	blood:	n/a	n/a
2	E2F6	chr4:48485224-48485643	K562	blood:	n/a	chr4:48485426-48485435 chr4:48485395-48485405
3	E2F6	chr4:48485161-48486305	K562	blood:	n/a	chr4:48485426-48485435 chr4:48485395-48485405
4	EGR1	chr4:48484907-48485299	K562	blood:	n/a	chr4:48485105-48485118 chr4:48485105-48485118 chr4:48485106-48485116 chr4:48485104-48485119
5	ELF1	chr4:48485032-48485356	K562	blood:	n/a	n/a
6	EP300	chr4:48485029-48485348	K562	blood:	n/a	n/a
7	EP300	chr4:48484919-48485385	SK-N-SH_RA	brain:	n/a	chr4:48485366-48485382
8	EP300	chr4:48484227-48486994	SK-N-SH	brain:	n/a	chr4:48485456-48485472 chr4:48485429-48485438 chr4:48485459-48485475 chr4:48484359-48484368 chr4:48485366-48485382
9	EP300	chr4:48484980-48485356	SK-N-SH_RA	brain:	n/a	n/a
10	GATA2	chr4:48484985-48485669	SH-SY5Y	brain:	n/a	chr4:48485196-48485206
11	GATA2	chr4:48485064-48485382	K562	blood:	n/a	chr4:48485196-48485206
12	HEY1	chr4:48485225-48485631	K562	blood:	n/a	chr4:48485363-48485378
13	HMGN3	chr4:48485128-48486194	K562	blood:	n/a	n/a
14	JUND	chr4:48485073-48485291	K562	blood:	n/a	n/a
15	MAX	chr4:48485171-48486272	K562	blood:	n/a	n/a
16	MAX	chr4:48485070-48486507	K562	blood:	n/a	chr4:48485105-48485115
17	MAX	chr4:48485201-48486284	A549	lung:	n/a	n/a
18	MAX	chr4:48485228-48485852	ECC-1	luminal epithelium:	n/a	n/a
19	MAZ	chr4:48484876-48485582	K562	blood:	n/a	chr4:48485105-48485115
20	MYC	chr4:48485049-48486411	K562	blood:	n/a	chr4:48485105-48485115
21	MYC	chr4:48485238-48485269	K562	blood:	n/a	n/a
22	MYC	chr4:48484985-48486385	K562	blood:	n/a	chr4:48485105-48485115
23	POLR2A	chr4:48485206-48485587	HCT-116	colon:	n/a	n/a
24	POLR2A	chr4:48485150-48485686	K562	blood:	n/a	n/a
25	POLR2A	chr4:48484979-48485526	K562	blood:	n/a	n/a
26	POLR2A	chr4:48485235-48485422	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:48485231-48485630	A549	lung:	n/a	n/a
28	POLR2A	chr4:48485208-48485665	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr4:48485026-48486458	K562	blood:	n/a	n/a
30	POLR2A	chr4:48484898-48485632	H1-neurons	neurons:	n/a	n/a
31	POLR2A	chr4:48485136-48485684	K562	blood:	n/a	n/a
32	POLR2A	chr4:48484883-48485759	H1-neurons	neurons:	n/a	n/a
33	POLR2A	chr4:48485191-48485702	A549	lung:	n/a	n/a
34	RAD21	chr4:48484955-48485336	SK-N-SH_RA	brain:	n/a	n/a
35	RCOR1	chr4:48484959-48486381	K562	blood:	n/a	n/a
36	RCOR1	chr4:48485012-48485372	K562	blood:	n/a	n/a
37	REST	chr4:48484967-48485297	SK-N-SH	brain:	n/a	n/a
38	REST	chr4:48484690-48486047	H1-neurons	neurons:	n/a	n/a
39	TAF1	chr4:48485073-48485543	K562	blood:	n/a	n/a
40	TAL1	chr4:48485044-48485352	K562	blood:	n/a	n/a
41	TBL1XR1	chr4:48485096-48485274	K562	blood:	n/a	n/a
42	TBL1XR1	chr4:48484900-48485284	K562	blood:	n/a	n/a
43	TBP	chr4:48485021-48485503	K562	blood:	n/a	n/a
44	TEAD4	chr4:48484947-48485390	K562	blood:	n/a	n/a
45	TEAD4	chr4:48484987-48485308	K562	blood:	n/a	n/a
46	UBTF	chr4:48485083-48487203	K562	blood:	n/a	n/a
47	UBTF	chr4:48485216-48486470	K562	blood:	n/a	n/a
48	YY1	chr4:48485202-48486156	K562	blood:	n/a	chr4:48485429-48485438 chr4:48485426-48485435
49	YY1	chr4:48485126-48485647	K562	blood:	n/a	chr4:48485429-48485438 chr4:48485426-48485435
50	ZBTB7A	chr4:48484926-48485337	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:48485233-48485283	HEEpiC	esophagus:	n/a
2	chr4:48485233-48485283	HepG2	liver:	n/a
3	chr4:48485233-48485283	AG04450	lung:	fetal
4	chr4:48485233-48485283	HMEC	breast:	n/a
5	chr4:48485233-48485283	A549	lung:	n/a
6	chr4:48485233-48485283	HCPEpiC	choroid plexus:	n/a
7	chr4:48485233-48485283	NHBE	bronchial:	n/a
8	chr4:48485233-48485283	HRE	kidney:	n/a
9	chr4:48485233-48485283	AG09309	skin:	n/a
10	chr4:48485233-48485283	GM12878	blood:	n/a
11	chr4:48485233-48485283	Jurkat	blood:	n/a
12	chr4:48485233-48485283	AG10803	skin:	n/a
13	chr4:48485233-48485283	AoSMC	blood vessel:	n/a
14	chr4:48485233-48485283	BJ	skin:	n/a
15	chr4:48485233-48485283	CMK	blood:	n/a
16	chr4:48485233-48485283	SKMC	muscle:	n/a
17	chr4:48485233-48485283	GM06990	blood:	n/a
18	chr4:48485233-48485283	ovcar-3	ovarian:	n/a
19	chr4:48485233-48485283	NHDF-neo	bronchial:	n/a
20	chr4:48485233-48485283	T-47D	breast:	n/a
21	chr4:48485233-48485283	GM19239	blood:	n/a
22	chr4:48485233-48485283	HAEpiC	amniotic membrane:	n/a
23	chr4:48485233-48485283	BE2_C	brain:	n/a
24	chr4:48485233-48485283	NB4	blood:	n/a
25	chr4:48485233-48485283	NH-A	brain:	n/a
26	chr4:48485233-48485283	PANC-1	pancreas:	n/a
27	chr4:48485233-48485283	SK-N-MC	brain:	n/a
28	chr4:48485233-48485283	PrEC	prostate:	n/a
29	chr4:48485233-48485283	MCF10A-Er-Src	breast:	n/a
30	chr4:48485233-48485283	PFSK-1	brain:	n/a
31	chr4:48485233-48485283	GM12892	blood:	n/a
32	chr4:48485233-48485283	HEK293	kidney:	embryo
33	chr4:48485233-48485283	HCM	heart:	n/a
34	chr4:48485233-48485283	HRPEpiC	eye:	n/a
35	chr4:48485233-48485283	SK-N-SH	brain:	n/a
36	chr4:48485233-48485283	AG04449	skin:	fetal
37	chr4:48485233-48485283	SK-N-SH_RA	brain:	n/a
38	chr4:48485233-48485283	SAEC	small airway:	n/a
39	chr4:48485233-48485283	ECC-1	luminal epithelium:	n/a
40	chr4:48485233-48485283	HPAEpiC	pulmonary alveolar:	n/a
41	chr4:48485233-48485283	HIPEpiC	eye:	n/a
42	chr4:48485233-48485283	HRCEpiC	kidney:	n/a
43	chr4:48485233-48485283	Hepatocyte	liver:	n/a
44	chr4:48485233-48485283	AG09319	gingival:	n/a
45	chr4:48485233-48485283	HCT-116	colon:	n/a
46	chr4:48485233-48485283	RPTEC	kidney:	n/a
47	chr4:48485233-48485283	U87	brain:	n/a
48	chr4:48485233-48485283	Hela-S3	cervix:	n/a
49	chr4:48485233-48485283	HUVEC	blood vessel:	n/a
50	chr4:48485233-48485283	K562	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48341909..48343469-chr4:48483589..48486077,2	K562	blood:
2	chr4:48484114..48487251-chr4:48504187..48509460,5	K562	blood:

No data

Variant related genes	Relation type
SLC10A4	TF binding region
SLC10A4	CpG island
ENSG00000109171	chromatin interactions
ENSG00000075539	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 61 )

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	rs35118024	chr4:48485250-48485251	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs199935444	chr4:48485251-48485252	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48484600-48486600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr4:48484600-48486600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr4:48484800-48485800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:48484800-48485800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:48484800-48486000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:48484800-48486000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:48484800-48486200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
8	chr4:48484800-48486600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr4:48484800-48487200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr4:48484800-48487200	Active TSS	A549	lung
11	chr4:48485000-48485400	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48485000-48485400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:48485000-48485400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:48485000-48485400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr4:48485000-48485400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:48485000-48485400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:48485000-48485400	Bivalent/Poised TSS	Thymus	Thymus
18	chr4:48485000-48485400	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
19	chr4:48485000-48485600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:48485000-48485600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:48485000-48485600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
22	chr4:48485000-48485600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr4:48485000-48485600	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
24	chr4:48485000-48485600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:48485000-48485600	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
26	chr4:48485000-48485600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:48485000-48485600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr4:48485000-48485600	Active TSS	Right Atrium	heart
29	chr4:48485000-48485600	Bivalent/Poised TSS	NHEK	skin
30	chr4:48485000-48485800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
31	chr4:48485000-48485800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
32	chr4:48485000-48485800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
33	chr4:48485000-48485800	Bivalent/Poised TSS	HepG2	liver
34	chr4:48485000-48485800	Bivalent/Poised TSS	HSMMtube	muscle
35	chr4:48485000-48486000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:48485000-48486000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:48485000-48486000	Bivalent Enhancer	Liver	Liver
38	chr4:48485000-48486000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
39	chr4:48485000-48486200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:48485000-48486200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr4:48485000-48486200	Active TSS	Brain Substantia Nigra	brain
42	chr4:48485000-48486400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
43	chr4:48485000-48486400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr4:48485000-48486400	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr4:48485000-48486400	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
46	chr4:48485000-48486600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr4:48485000-48486600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:48485000-48486600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48485000-48486600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
50	chr4:48485000-48486600	Bivalent/Poised TSS	Fetal Brain Female	brain

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