Variant report

Variant	esv3467449
Chromosome Location	chr4:158555623-158560570
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:123)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr4:158556998-158557356	K562	blood:	n/a	n/a
2	POLR2A	chr4:158558065-158558200	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:158560519-158560560	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr4:158558064-158558207	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr4:158559866-158560169	HL-60	blood:	n/a	n/a
6	REST	chr4:158559803-158560175	ECC-1	luminal epithelium:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:158557564-158557614	ECC-1	luminal epithelium:	n/a
2	chr4:158557564-158557614	ECC-1	luminal epithelium:	n/a
3	chr4:158559183-158559233	T-47D	breast:	n/a
4	chr4:158559183-158559233	HEK293	kidney:	embryo
5	chr4:158559183-158559233	NHDF-neo	bronchial:	n/a
6	chr4:158557564-158557614	HCM	heart:	n/a
7	chr4:158557564-158557614	AoSMC	blood vessel:	n/a
8	chr4:158557564-158557614	HCF	heart:	n/a
9	chr4:158559183-158559233	NT2-D1	testis:	n/a
10	chr4:158559183-158559233	SK-N-MC	brain:	n/a
11	chr4:158557564-158557614	HNPCEpiC	eye:	n/a
12	chr4:158559183-158559233	HEEpiC	esophagus:	n/a
13	chr4:158557564-158557614	Hela-S3	cervix:	n/a
14	chr4:158557564-158557614	AG10803	skin:	n/a
15	chr4:158557564-158557614	HCPEpiC	choroid plexus:	n/a
16	chr4:158557564-158557614	Hepatocyte	liver:	n/a
17	chr4:158559183-158559233	HRPEpiC	eye:	n/a
18	chr4:158559183-158559233	HCPEpiC	choroid plexus:	n/a
19	chr4:158559183-158559233	AG09309	skin:	n/a
20	chr4:158559183-158559233	HCM	heart:	n/a
21	chr4:158559183-158559233	RPTEC	kidney:	n/a
22	chr4:158559183-158559233	SKMC	muscle:	n/a
23	chr4:158559183-158559233	GM06990	blood:	n/a
24	chr4:158559183-158559233	CMK	blood:	n/a
25	chr4:158557564-158557614	K562	blood:	n/a
26	chr4:158557564-158557614	GM06990	blood:	n/a
27	chr4:158559183-158559233	HRCEpiC	kidney:	n/a
28	chr4:158559183-158559233	PrEC	prostate:	n/a
29	chr4:158559183-158559233	NB4	blood:	n/a
30	chr4:158559183-158559233	PFSK-1	brain:	n/a
31	chr4:158557564-158557614	AG09319	gingival:	n/a
32	chr4:158557564-158557614	RPTEC	kidney:	n/a
33	chr4:158559183-158559233	HRE	kidney:	n/a
34	chr4:158557564-158557614	PANC-1	pancreas:	n/a
35	chr4:158559183-158559233	ovcar-3	ovarian:	n/a
36	chr4:158559183-158559233	MCF10A-Er-Src	breast:	n/a
37	chr4:158559183-158559233	Hela-S3	cervix:	n/a
38	chr4:158559183-158559233	ECC-1	luminal epithelium:	n/a
39	chr4:158557564-158557614	NT2-D1	testis:	n/a
40	chr4:158557564-158557614	GM12892	blood:	n/a
41	chr4:158557564-158557614	NH-A	brain:	n/a
42	chr4:158557564-158557614	HepG2	liver:	n/a
43	chr4:158557564-158557614	HPAEpiC	pulmonary alveolar:	n/a
44	chr4:158557564-158557614	MCF10A-Er-Src	breast:	n/a
45	chr4:158557564-158557614	CMK	blood:	n/a
46	chr4:158557564-158557614	SK-N-MC	brain:	n/a
47	chr4:158559183-158559233	GM12878	blood:	n/a
48	chr4:158557564-158557614	SAEC	small airway:	n/a
49	chr4:158559183-158559233	AG09319	gingival:	n/a
50	chr4:158557564-158557614	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000249275	TF binding region
ENSG00000249275	CpG island

Extended variants
information (count: 17 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529940643	chr4:158557109-158557110	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs543831930	chr4:158557121-158557122	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs71640664	chr4:158557148-158557149	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs4690888	chr4:158557149-158557150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs4248876	chr4:158557166-158557167	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373504126	chr4:158557184-158557185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs7376319	chr4:158557205-158557206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs548094318	chr4:158557229-158557230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566284631	chr4:158557261-158557262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs35727036	chr4:158557564-158557565	Inactive region	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs80318935	chr4:158557568-158557569	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs71545254	chr4:158557574-158557575	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs76936726	chr4:158557576-158557577	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs184614643	chr4:158558129-158558130	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs556970211	chr4:158558149-158558150	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs376738299	chr4:158558168-158558169	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs112688978	chr4:158558190-158558191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Colorectal cancer	16774939	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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