Variant report

Variant	nsv964095
Chromosome Location	chr4:124982877-124984630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:124982529-124982953	SK-N-MC	brain:	n/a	n/a
2	POLR2A	chr4:124982499-124983009	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:124983615-124983665	MCF-7	breast:	n/a
2	chr4:124983615-124983665	CMK	blood:	n/a
3	chr4:124983615-124983665	HRCEpiC	kidney:	n/a
4	chr4:124983615-124983665	BE2_C	brain:	n/a
5	chr4:124983615-124983665	PANC-1	pancreas:	n/a
6	chr4:124983615-124983665	GM12892	blood:	n/a
7	chr4:124983615-124983665	AG04450	lung:	fetal
8	chr4:124983615-124983665	NHBE	bronchial:	n/a
9	chr4:124983615-124983665	Hepatocyte	liver:	n/a
10	chr4:124983615-124983665	LNCaP	prostate:	n/a
11	chr4:124983615-124983665	HRPEpiC	eye:	n/a
12	chr4:124983615-124983665	ProgFib	skin:	n/a
13	chr4:124983615-124983665	AG09309	skin:	n/a
14	chr4:124983615-124983665	HEEpiC	esophagus:	n/a
15	chr4:124983615-124983665	Hela-S3	cervix:	n/a
16	chr4:124983615-124983665	PFSK-1	brain:	n/a
17	chr4:124983615-124983665	GM06990	blood:	n/a
18	chr4:124983615-124983665	ovcar-3	ovarian:	n/a
19	chr4:124983615-124983665	HEK293	kidney:	embryo
20	chr4:124983615-124983665	Caco-2	colon:	n/a
21	chr4:124983615-124983665	AG04449	skin:	fetal
22	chr4:124983615-124983665	AG09319	gingival:	n/a
23	chr4:124983615-124983665	SKMC	muscle:	n/a
24	chr4:124983615-124983665	HCM	heart:	n/a
25	chr4:124983615-124983665	SK-N-SH_RA	brain:	n/a
26	chr4:124983615-124983665	MCF10A-Er-Src	breast:	n/a
27	chr4:124983615-124983665	BJ	skin:	n/a
28	chr4:124983615-124983665	U87	brain:	n/a
29	chr4:124983615-124983665	IMR90	lung:	fetal
30	chr4:124983615-124983665	HMEC	breast:	n/a
31	chr4:124983615-124983665	HCF	heart:	n/a
32	chr4:124983615-124983665	AG10803	skin:	n/a
33	chr4:124983615-124983665	RPTEC	kidney:	n/a
34	chr4:124983615-124983665	HNPCEpiC	eye:	n/a
35	chr4:124983615-124983665	Jurkat	blood:	n/a
36	chr4:124983615-124983665	H1-hESC	embryonic stem cell:	embryo
37	chr4:124983615-124983665	HCT-116	colon:	n/a
38	chr4:124983615-124983665	ECC-1	luminal epithelium:	n/a
39	chr4:124983615-124983665	NB4	blood:	n/a
40	chr4:124983615-124983665	GM19239	blood:	n/a
41	chr4:124983615-124983665	NH-A	brain:	n/a
42	chr4:124983615-124983665	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:124983615-124983665	NHDF-neo	bronchial:	n/a
44	chr4:124983615-124983665	PrEC	prostate:	n/a
45	chr4:124983615-124983665	SAEC	small airway:	n/a
46	chr4:124983615-124983665	HRE	kidney:	n/a
47	chr4:124983615-124983665	HL-60	blood:	n/a
48	chr4:124983615-124983665	AoSMC	blood vessel:	n/a
49	chr4:124983615-124983665	HCPEpiC	choroid plexus:	n/a
50	chr4:124983615-124983665	NT2-D1	testis:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPRY1-8	chr4:124983617-124984145	NONHSAT098211

No data

Variant related genes	Relation type
ENSG00000250484	TF binding region
ENSG00000250484	CpG island

Extended variants
information (count: 70 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:70 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535050233	chr4:124982915-124982916	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs555707843	chr4:124982950-124982951	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2176663	chr4:124983001-124983002	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13112125	chr4:124983047-124983048	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs141676147	chr4:124983048-124983049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577708411	chr4:124983066-124983067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539949610	chr4:124983119-124983120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560149763	chr4:124983127-124983128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536721613	chr4:124983146-124983147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368052688	chr4:124983162-124983163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528894506	chr4:124983166-124983167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548537948	chr4:124983191-124983192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187774721	chr4:124983228-124983229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531086275	chr4:124983275-124983276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556934153	chr4:124983286-124983287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550794266	chr4:124983318-124983319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1519244	chr4:124983332-124983333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147035610	chr4:124983346-124983347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541198984	chr4:124983348-124983349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533513433	chr4:124983373-124983374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192928900	chr4:124983395-124983396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138253503	chr4:124983457-124983458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141840628	chr4:124983488-124983489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546523581	chr4:124983522-124983523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553750155	chr4:124983549-124983550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555769279	chr4:124983577-124983578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74974534	chr4:124983605-124983606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183486417	chr4:124983615-124983616	Enhancers Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs542443330	chr4:124983633-124983634	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs558031364	chr4:124983668-124983669	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs371947641	chr4:124983681-124983682	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs138095816	chr4:124983704-124983705	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs62320015	chr4:124983725-124983726	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs114043223	chr4:124983729-124983730	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs531054328	chr4:124983730-124983731	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs544343337	chr4:124983748-124983749	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs368676155	chr4:124983752-124983753	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs371633668	chr4:124983775-124983776	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs187992037	chr4:124983807-124983808	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs193004077	chr4:124983824-124983825	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs542240666	chr4:124983840-124983841	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs113359570	chr4:124983864-124983865	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs183947591	chr4:124983868-124983869	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs1914903	chr4:124983874-124983875	Enhancers Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs149505366	chr4:124983895-124983896	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs146007393	chr4:124983920-124983921	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs139863280	chr4:124984007-124984008	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs143309810	chr4:124984032-124984033	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188282972	chr4:124984052-124984053	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs529391457	chr4:124984060-124984061	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Thoracic aortic aneurysm	21092924	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
Breast cancer	16272173	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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Hodgkin''s lymphoma	17606441	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124981000-124983000	Enhancers	HSMMtube	muscle
2	chr4:124981000-124983400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:124981000-124984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:124981400-124983400	Enhancers	HSMM	muscle
5	chr4:124981400-124983400	Enhancers	NHDF-Ad	bronchial
6	chr4:124981400-124984800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:124981600-124983200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:124981800-124983400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr4:124981800-124983600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr4:124982000-124983000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:124982000-124983600	Weak transcription	Fetal Muscle Leg	muscle
12	chr4:124982000-124984000	Enhancers	Adipose Nuclei	Adipose
13	chr4:124982200-124983000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:124982200-124983400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:124982400-124983000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:124982400-124984600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:124982400-124987600	Weak transcription	Colon Smooth Muscle	Colon
18	chr4:124982600-124983000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:124982600-124985000	Weak transcription	NHLF	lung
20	chr4:124982800-124983800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:124982800-125000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:124983000-124983400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:124983000-124983600	Weak transcription	HSMMtube	muscle
24	chr4:124983400-124985800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:124983400-124987000	Weak transcription	HSMM	muscle
26	chr4:124983600-124983800	Enhancers	HSMMtube	muscle
27	chr4:124983600-124984800	Enhancers	Fetal Muscle Leg	muscle
28	chr4:124984600-124986400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links