Variant report

Variant	nsv967843
Chromosome Location	chr4:119521168-119524494
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	FOXA1	chr4:119523720-119524151	HepG2	liver:	n/a	n/a
2	JUND	chr4:119523899-119524026	HepG2	liver:	n/a	n/a
3	SP1	chr4:119523715-119524106	HepG2	liver:	n/a	n/a
4	USF1	chr4:119523908-119524013	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RNU6-1054P	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71610213	chr4:119521263-119521264	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200171488	chr4:119521280-119521281	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560715598	chr4:119521495-119521496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs74396305	chr4:119521500-119521501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200610746	chr4:119521501-119521502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547909015	chr4:119521520-119521521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543694959	chr4:119521573-119521574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563495917	chr4:119521650-119521651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532313227	chr4:119521696-119521697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538446800	chr4:119521713-119521714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552072942	chr4:119521723-119521724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201916998	chr4:119521757-119521758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs367810617	chr4:119521872-119521873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559842608	chr4:119521883-119521884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372016922	chr4:119521977-119521978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376950912	chr4:119521979-119521980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528567038	chr4:119521981-119521982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548572343	chr4:119521997-119521998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147872820	chr4:119522096-119522097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530609189	chr4:119522148-119522149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369412777	chr4:119522157-119522158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570791290	chr4:119522195-119522196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200035835	chr4:119522218-119522219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139915264	chr4:119522221-119522222	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572147887	chr4:119522225-119522226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373167115	chr4:119522235-119522236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534383146	chr4:119522270-119522271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554610417	chr4:119522339-119522340	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183813107	chr4:119522380-119522381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201764153	chr4:119522389-119522390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543756360	chr4:119522405-119522406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62326242	chr4:119522418-119522419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577189330	chr4:119522424-119522425	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187046963	chr4:119522458-119522459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375674027	chr4:119522506-119522507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546018276	chr4:119522524-119522525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370294263	chr4:119522582-119522583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372693506	chr4:119522604-119522605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528589539	chr4:119522616-119522617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201903881	chr4:119522648-119522649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371030611	chr4:119522675-119522676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191949433	chr4:119522687-119522688	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544859888	chr4:119522690-119522691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561759731	chr4:119522835-119522836	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560960658	chr4:119522878-119522879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375201058	chr4:119522879-119522880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185376060	chr4:119522887-119522888	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530845282	chr4:119522922-119522923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190307704	chr4:119523018-119523019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570859414	chr4:119523061-119523062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Autism	22495311	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
Melanoma	18172304	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
Adenoid cystic carcinoma	18698036	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
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Autism	19246517	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119513400-119521800	Weak transcription	Colonic Mucosa	Colon
2	chr4:119513400-119522800	Weak transcription	Small Intestine	intestine
3	chr4:119513400-119527800	Weak transcription	Brain Substantia Nigra	brain
4	chr4:119513400-119528200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr4:119513400-119528400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:119513400-119534800	Weak transcription	Primary B cells from cord blood	blood
7	chr4:119513400-119551400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:119513400-119554000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:119513400-119554800	Weak transcription	Ovary	ovary
10	chr4:119513400-119557200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:119513600-119521800	Weak transcription	HUVEC	blood vessel
12	chr4:119513600-119522200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:119513600-119524000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:119513600-119526400	Weak transcription	Left Ventricle	heart
15	chr4:119513600-119526600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:119513600-119526600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:119513600-119526600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr4:119513600-119526800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:119513600-119527000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr4:119513600-119527200	Weak transcription	Brain Germinal Matrix	brain
21	chr4:119513600-119528000	Weak transcription	HSMMtube	muscle
22	chr4:119513600-119529000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr4:119513600-119530600	Weak transcription	Primary T cells from cord blood	blood
24	chr4:119513600-119536800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:119513600-119539200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr4:119513600-119549200	Weak transcription	Esophagus	oesophagus
27	chr4:119513600-119550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:119513600-119551000	Weak transcription	Pancreas	Pancrea
29	chr4:119513600-119551600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr4:119513600-119552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:119513600-119552400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:119513600-119552400	Weak transcription	Fetal Brain Female	brain
33	chr4:119513600-119552400	Weak transcription	Lung	lung
34	chr4:119513600-119552400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:119513600-119554000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:119513600-119555800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:119513600-119559200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr4:119513800-119526600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:119513800-119526800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:119513800-119527400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:119513800-119551200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr4:119513800-119552400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:119513800-119555000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr4:119513800-119556000	Weak transcription	Fetal Lung	lung
45	chr4:119517400-119526200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:119518000-119521200	Strong transcription	Adipose Nuclei	Adipose
47	chr4:119518000-119521200	Strong transcription	Liver	Liver
48	chr4:119518000-119523000	Strong transcription	Fetal Stomach	stomach
49	chr4:119518200-119521200	Strong transcription	Primary neutrophils fromperipheralblood	blood
50	chr4:119518200-119521200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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