Variant report

Variant	nsv1014399
Chromosome Location	chr4:122273631-122285135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 260 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374962312	chr4:122274418-122274419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541171500	chr4:122274445-122274446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577013722	chr4:122274447-122274448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs55903137	chr4:122274475-122274476	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs1606576	chr4:122274492-122274493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs549438863	chr4:122274493-122274494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569517355	chr4:122274494-122274495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548742217	chr4:122274496-122274497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193206345	chr4:122274516-122274517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562460207	chr4:122274521-122274522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79403896	chr4:122274557-122274558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183844164	chr4:122274645-122274646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34398514	chr4:122274692-122274693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201624918	chr4:122274719-122274720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558292917	chr4:122274739-122274740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571216193	chr4:122274791-122274792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs578121430	chr4:122274837-122274838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543823234	chr4:122274841-122274842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2390137	chr4:122274917-122274918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528464550	chr4:122279070-122279071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145201070	chr4:122279071-122279072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182532533	chr4:122279134-122279135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528836858	chr4:122279142-122279143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185652729	chr4:122279171-122279172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72668974	chr4:122279192-122279193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs56029221	chr4:122279269-122279270	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs530067132	chr4:122279296-122279297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552524976	chr4:122279387-122279388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs73845777	chr4:122279441-122279442	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553233513	chr4:122279543-122279544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35499324	chr4:122279575-122279576	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs535425510	chr4:122279656-122279657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538843479	chr4:122279678-122279679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555024571	chr4:122279723-122279724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575302580	chr4:122279766-122279767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs190737357	chr4:122279769-122279770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558000126	chr4:122279824-122279825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs11098615	chr4:122279840-122279841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577896547	chr4:122279900-122279901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540560510	chr4:122279908-122279909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111362008	chr4:122279933-122279934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115524667	chr4:122280011-122280012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4259086	chr4:122280041-122280042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs570746941	chr4:122280070-122280071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12499042	chr4:122280132-122280133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs531450057	chr4:122280150-122280151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531054277	chr4:122280250-122280251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550624247	chr4:122280252-122280253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570742638	chr4:122280267-122280268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533348921	chr4:122280306-122280307	Enhancers Weak transcription	n/a	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122274400-122275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:122274400-122275000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:122279000-122279400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:122279000-122280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:122279200-122280400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:122279400-122279800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:122279400-122280200	Enhancers	NHEK	skin
8	chr4:122279400-122280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:122279400-122280400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:122279400-122280600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:122279400-122280600	Enhancers	HMEC	breast
12	chr4:122279600-122280000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:122279600-122280400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:122279800-122280200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:122279800-122280400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:122279800-122280400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:122279800-122280400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:122280200-122281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:122280200-122281600	Weak transcription	NHEK	skin
20	chr4:122280400-122280600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:122280400-122281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:122280400-122281400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:122280400-122281600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:122280400-122281600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:122280600-122281000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:122280600-122281000	Weak transcription	HMEC	breast
27	chr4:122280600-122281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:122280800-122281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr4:122281000-122281200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:122281000-122282200	Enhancers	HMEC	breast
31	chr4:122281200-122282200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:122281200-122282200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr4:122281200-122283400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:122281400-122282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:122281400-122282200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:122281600-122281800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:122281600-122282200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:122281600-122282200	Enhancers	Muscle Satellite Cultured Cells	--
39	chr4:122281600-122282200	Enhancers	NHEK	skin
40	chr4:122282200-122294000	Weak transcription	HMEC	breast
41	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:122283400-122284000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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