Variant report

Variant	esv3418309
Chromosome Location	chr4:150994375-150994752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr4:150994320-150994731	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr4:150993691-150994700	A549	lung:	n/a	chr4:150994035-150994047
3	CEBPB	chr4:150994206-150994788	A549	lung:	n/a	n/a
4	CEBPB	chr4:150994231-150994721	IMR90	lung:	n/a	n/a
5	CEBPB	chr4:150994242-150994719	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr4:150994284-150994612	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr4:150993595-150994860	A549	lung:	n/a	chr4:150994408-150994422
8	EP300	chr4:150994073-150994823	A549	lung:	n/a	chr4:150994408-150994422
9	EP300	chr4:150994010-150994876	SK-N-SH	brain:	n/a	chr4:150994408-150994422
10	EP300	chr4:150994102-150994944	SK-N-SH	brain:	n/a	chr4:150994868-150994882 chr4:150994408-150994422
11	EP300	chr4:150994214-150994703	Hela-S3	cervix:	n/a	chr4:150994408-150994422
12	FOS	chr4:150994292-150994649	MCF10A-Er-Src	breast:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
13	FOS	chr4:150994325-150994678	MCF10A-Er-Src	breast:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
14	FOS	chr4:150994324-150994626	MCF10A-Er-Src	breast:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
15	FOS	chr4:150994261-150994738	MCF10A-Er-Src	breast:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
16	FOSL2	chr4:150994125-150994845	SK-N-SH	brain:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
17	GATA3	chr4:150994057-150994831	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr4:150993646-150994787	A549	lung:	n/a	n/a
19	GATA3	chr4:150994094-150994807	SK-N-SH	brain:	n/a	n/a
20	JUND	chr4:150994107-150994769	SK-N-SH	brain:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
21	JUND	chr4:150994128-150994830	SK-N-SH	brain:	n/a	chr4:150994325-150994337 chr4:150994538-150994548
22	MAFK	chr4:150994214-150994685	IMR90	lung:	n/a	n/a
23	MAFK	chr4:150994502-150994558	HepG2	liver:	n/a	n/a
24	MAFK	chr4:150994274-150994617	Hela-S3	cervix:	n/a	n/a
25	MAFK	chr4:150994391-150994603	HepG2	liver:	n/a	n/a
26	MAX	chr4:150994333-150994744	Hela-S3	cervix:	n/a	n/a
27	MAX	chr4:150994329-150994727	SK-N-SH	brain:	n/a	n/a
28	MAX	chr4:150994250-150994777	A549	lung:	n/a	n/a
29	MAX	chr4:150994236-150994822	A549	lung:	n/a	n/a
30	MAX	chr4:150994257-150994814	SK-N-SH	brain:	n/a	n/a
31	MEF2A	chr4:150994129-150994832	SK-N-SH	brain:	n/a	chr4:150994385-150994406 chr4:150994385-150994406
32	MYC	chr4:150994329-150994795	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr4:150994191-150994790	MCF10A-Er-Src	breast:	n/a	n/a
34	NFIC	chr4:150994063-150995017	SK-N-SH	brain:	n/a	n/a
35	NFIC	chr4:150994258-150994826	SK-N-SH	brain:	n/a	n/a
36	PBX3	chr4:150994146-150994819	SK-N-SH	brain:	n/a	n/a
37	PBX3	chr4:150994207-150994695	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr4:150994410-150994634	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr4:150994218-150994777	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr4:150994191-150994726	U87	brain:	n/a	n/a
41	POLR2A	chr4:150993930-150994607	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr4:150994231-150994770	U87	brain:	n/a	n/a
43	RCOR1	chr4:150994343-150994650	Hela-S3	cervix:	n/a	n/a
44	RFX5	chr4:150994256-150994681	Hela-S3	cervix:	n/a	n/a
45	RXRA	chr4:150994192-150994789	SK-N-SH	brain:	n/a	n/a
46	SP1	chr4:150994185-150994750	A549	lung:	n/a	n/a
47	SP1	chr4:150994034-150994738	A549	lung:	n/a	n/a
48	STAT3	chr4:150994321-150994654	Hela-S3	cervix:	n/a	n/a
49	STAT3	chr4:150994274-150994737	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr4:150994279-150994661	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:150987108..150989681-chr4:150993740..150996286,2	K562	blood:

Variant related genes	Relation type
DCLK2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551248255	chr4:150994381-150994382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116672866	chr4:150994415-150994416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533780000	chr4:150994448-150994449	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111412314	chr4:150994449-150994450	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558422187	chr4:150994500-150994501	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs144476182	chr4:150994502-150994503	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs367820952	chr4:150994553-150994554	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs535938152	chr4:150994601-150994602	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs77327991	chr4:150994619-150994620	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577024530	chr4:150994635-150994636	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs532795826	chr4:150994650-150994651	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139207227	chr4:150994652-150994653	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs550801835	chr4:150994655-150994656	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs575888893	chr4:150994688-150994689	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs185071906	chr4:150994711-150994712	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12509998	chr4:150994728-150994729	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs188498127	chr4:150994730-150994731	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs144071381	chr4:150994733-150994734	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs181047987	chr4:150994746-150994747	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:150989800-150998400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:150990600-150995400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:150990600-150995400	Enhancers	Osteobl	bone
4	chr4:150990800-150995000	Enhancers	NHDF-Ad	bronchial
5	chr4:150990800-150995400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:150991800-150994400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:150993800-150994400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:150993800-150994400	Flanking Active TSS	A549	lung
9	chr4:150993800-150995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr4:150994000-150994400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:150994000-150994400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr4:150994000-150994600	Enhancers	HSMM	muscle
13	chr4:150994000-150994800	Enhancers	Adipose Nuclei	Adipose
14	chr4:150994000-150995000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:150994000-150995000	Enhancers	NHLF	lung
16	chr4:150994000-150999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:150994200-150994800	Enhancers	Brain Angular Gyrus	brain
18	chr4:150994200-150995000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:150994200-150995000	Enhancers	Brain Anterior Caudate	brain
20	chr4:150994200-150995000	Enhancers	NH-A	brain
21	chr4:150994400-150994800	Enhancers	Colon Smooth Muscle	Colon
22	chr4:150994400-150995000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:150994400-150995200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:150994400-150995600	Enhancers	A549	lung
25	chr4:150994400-150998800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr4:150994600-150995000	Enhancers	HSMMtube	muscle
27	chr4:150994600-150998800	Weak transcription	HSMM	muscle

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