Variant report

Variant	nsv967791
Chromosome Location	chr4:120316592-120323446
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	NR2F2	chr4:120317578-120317854	K562	blood:	n/a	n/a
2	POLR2A	chr4:120323426-120323544	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000249244	TF binding region

Extended variants
information (count: 302 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:302 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566767362	chr4:120316624-120316625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4370121	chr4:120316671-120316672	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371604459	chr4:120316675-120316676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555444206	chr4:120316680-120316681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575382260	chr4:120316683-120316684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28572238	chr4:120316686-120316687	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs558312773	chr4:120316747-120316748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556912910	chr4:120316754-120316755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576948888	chr4:120316764-120316765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545804500	chr4:120316768-120316769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369126244	chr4:120316771-120316772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559565948	chr4:120316778-120316779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528075109	chr4:120316869-120316870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541890948	chr4:120316904-120316905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561656941	chr4:120316923-120316924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs180676513	chr4:120316931-120316932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28714195	chr4:120316950-120316951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs564544777	chr4:120316978-120316979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs142772745	chr4:120317003-120317004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546986282	chr4:120317020-120317021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567106953	chr4:120317028-120317029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535742828	chr4:120317033-120317034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543894513	chr4:120317034-120317035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568896775	chr4:120317053-120317054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537979142	chr4:120317105-120317106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558206475	chr4:120317172-120317173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59116083	chr4:120317260-120317261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186580492	chr4:120317331-120317332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552886647	chr4:120317362-120317363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11098514	chr4:120317374-120317375	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs542128001	chr4:120317387-120317388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188695911	chr4:120317392-120317393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575283704	chr4:120317427-120317428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10857068	chr4:120317549-120317550	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs555055301	chr4:120317559-120317560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533365735	chr4:120317562-120317563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181186962	chr4:120317581-120317582	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs373652047	chr4:120317661-120317662	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs560512648	chr4:120317662-120317663	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs529579276	chr4:120317663-120317664	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs148399173	chr4:120317674-120317675	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs60927317	chr4:120317675-120317676	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs549246535	chr4:120317676-120317677	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs368002265	chr4:120317686-120317687	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs185973686	chr4:120317692-120317693	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs537816662	chr4:120317706-120317707	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551596018	chr4:120317725-120317726	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs571756385	chr4:120317747-120317748	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs553165418	chr4:120317748-120317749	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs573051577	chr4:120317756-120317757	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120311600-120318400	Weak transcription	Pancreas	Pancrea
2	chr4:120313200-120318000	Weak transcription	HSMMtube	muscle
3	chr4:120316000-120316600	Enhancers	Placenta	Placenta
4	chr4:120316000-120316800	Enhancers	Brain Germinal Matrix	brain
5	chr4:120316000-120317200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr4:120316200-120317200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr4:120316400-120317400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:120316400-120318000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:120316400-120318000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr4:120316600-120317200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:120316600-120317800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:120316800-120317200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr4:120316800-120317200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:120316800-120317400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:120317000-120317200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:120317600-120325600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:120317800-120318400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr4:120318000-120333400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:120318400-120318600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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