Variant report

Variant	nsv10555
Chromosome Location	chr4:118723143-118725551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	4:118291537-118294071..4:118722741-118723956	H1-hESC	embryonic stem cell:	embryo
2	4:118320200-118324249..4:118722741-118723956	H1-hESC	embryonic stem cell:	embryo
3	4:118706981-118715929..4:118722741-118723956	H1-hESC	embryonic stem cell:	embryo

Extended variants
information (count: 82 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187153639	chr4:118723153-118723154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571745991	chr4:118723154-118723155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs370058200	chr4:118723156-118723157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11562874	chr4:118723245-118723246	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs372879105	chr4:118723342-118723343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35304940	chr4:118723361-118723362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371371122	chr4:118723375-118723376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376739662	chr4:118723383-118723384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7670296	chr4:118723426-118723427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556446026	chr4:118723434-118723435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576327198	chr4:118723455-118723456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4574479	chr4:118723487-118723488	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs72909324	chr4:118723502-118723503	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17862103	chr4:118723594-118723595	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs180789331	chr4:118723634-118723635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184977690	chr4:118723643-118723644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530417460	chr4:118723657-118723658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189781861	chr4:118723738-118723739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550161238	chr4:118723800-118723801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552359341	chr4:118723801-118723802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17862104	chr4:118723865-118723866	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537979407	chr4:118723879-118723880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138229910	chr4:118723943-118723944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374355864	chr4:118724045-118724046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551778751	chr4:118724059-118724060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143413588	chr4:118724060-118724061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538821787	chr4:118724074-118724075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547587075	chr4:118724104-118724105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567378066	chr4:118724123-118724124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536496454	chr4:118724142-118724143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs17869847	chr4:118724146-118724147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs147147111	chr4:118724162-118724163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17862105	chr4:118724179-118724180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs138392141	chr4:118724181-118724182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538925320	chr4:118724198-118724199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559176461	chr4:118724240-118724241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571344078	chr4:118724245-118724246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115176816	chr4:118724270-118724271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533909486	chr4:118724330-118724331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17866059	chr4:118724333-118724334	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372272326	chr4:118724352-118724353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553632361	chr4:118724373-118724374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149264493	chr4:118724431-118724432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs553793354	chr4:118724463-118724464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542876260	chr4:118724480-118724481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533834616	chr4:118724504-118724505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562648763	chr4:118724509-118724510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576274192	chr4:118724517-118724518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573604198	chr4:118724557-118724558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113470051	chr4:118724579-118724580	Weak 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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:118720200-118723400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr4:118720800-118726000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr4:118721800-118723200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:118722400-118723200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:118722600-118723200	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:118722600-118723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:118722600-118723200	Enhancers	Fetal Kidney	kidney
8	chr4:118722600-118723800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:118722800-118723800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:118723200-118728000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:118723400-118723800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:118723800-118724000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:118723800-118724000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr4:118723800-118726000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:118724000-118726400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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