Variant report

Variant	nsv4490
Chromosome Location	chr4:121782939-121801246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 638 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2390054	chr4:121783018-121783019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4833188	chr4:121783046-121783047	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs1397772	chr4:121783050-121783051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs553311307	chr4:121783053-121783054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566623648	chr4:121783056-121783057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142586962	chr4:121783064-121783065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555587294	chr4:121783074-121783075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575491795	chr4:121783096-121783097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552763034	chr4:121783115-121783116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17051272	chr4:121783136-121783137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs546804677	chr4:121783284-121783285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576851509	chr4:121783288-121783289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs111530090	chr4:121783393-121783394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545858878	chr4:121783424-121783425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559601887	chr4:121783433-121783434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528639768	chr4:121783487-121783488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542285581	chr4:121783543-121783544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542106199	chr4:121783556-121783557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185871211	chr4:121783589-121783590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374697526	chr4:121783617-121783618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575172663	chr4:121783628-121783629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555875164	chr4:121783674-121783675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1450473	chr4:121783680-121783681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs550572483	chr4:121783691-121783692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78096828	chr4:121783697-121783698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112780177	chr4:121783726-121783727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546631096	chr4:121783799-121783800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565478417	chr4:121783886-121783887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs535633345	chr4:121783906-121783907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555308884	chr4:121783913-121783914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569113522	chr4:121783931-121783932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112522469	chr4:121783936-121783937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1450474	chr4:121783949-121783950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139977803	chr4:121783950-121783951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73843633	chr4:121783964-121783965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1450475	chr4:121783966-121783967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs541764370	chr4:121783983-121783984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1450476	chr4:121784013-121784014	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs573298497	chr4:121784052-121784053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530147261	chr4:121784064-121784065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542392264	chr4:121784083-121784084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188702634	chr4:121784087-121784088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116402091	chr4:121784106-121784107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570089145	chr4:121784200-121784201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575930863	chr4:121784228-121784229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4833690	chr4:121784259-121784260	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs147334009	chr4:121784312-121784313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372476072	chr4:121784328-121784329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201849857	chr4:121784330-121784331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58178691	chr4:121784331-121784332	Enhancers 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
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
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Clear cell renal cell carcinoma	18791270	CNVD
Acute myeloid leukemia	19651601	CNVD
Gastric cancer	16891809	CNVD
Olfactory neuroblastoma	18408657	CNVD

Chromatin state (count:165 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121761200-121783600	Weak transcription	Pancreas	Pancrea
2	chr4:121765800-121786600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:121766000-121786600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:121766200-121790800	Weak transcription	Ovary	ovary
5	chr4:121771600-121783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr4:121771800-121786800	Weak transcription	Fetal Lung	lung
7	chr4:121775200-121790800	Weak transcription	Fetal Kidney	kidney
8	chr4:121777000-121783600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:121779800-121786400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:121780000-121786600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:121780200-121786800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:121780200-121790600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:121780600-121787000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr4:121783200-121783600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr4:121783600-121783800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr4:121783600-121784200	Enhancers	Fetal Intestine Small	intestine
17	chr4:121783600-121784200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr4:121783600-121784600	Enhancers	Pancreas	Pancrea
19	chr4:121783600-121786200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:121783800-121784600	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr4:121783800-121786400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:121784000-121784600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr4:121784200-121798000	Weak transcription	Fetal Intestine Small	intestine
24	chr4:121784600-121786000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:121784600-121791200	Weak transcription	Pancreas	Pancrea
26	chr4:121786000-121787400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:121786000-121787600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:121786200-121787000	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr4:121786200-121788000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:121786400-121787000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:121786400-121788000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:121786400-121788000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr4:121786600-121787400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr4:121786600-121787400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:121786600-121787400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr4:121786600-121787400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr4:121786600-121787600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr4:121786600-121787600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr4:121786600-121787800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr4:121786600-121788000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:121786600-121788000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:121786600-121788000	Enhancers	H9 Cell Line	embryonic stem cell
43	chr4:121786600-121788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:121786600-121788200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:121786800-121787000	Enhancers	Fetal Lung	lung
46	chr4:121786800-121787600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr4:121786800-121787600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:121787000-121787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:121787000-121787400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr4:121787000-121787400	Weak transcription	Fetal Lung	lung

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