Variant report

Variant	nsv595335
Chromosome Location	chr4:122280041-122288370
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 368 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4259086	chr4:122280041-122280042	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570746941	chr4:122280070-122280071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12499042	chr4:122280132-122280133	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531450057	chr4:122280150-122280151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531054277	chr4:122280250-122280251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550624247	chr4:122280252-122280253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs570742638	chr4:122280267-122280268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533348921	chr4:122280306-122280307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs10518388	chr4:122280335-122280336	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs367575469	chr4:122280387-122280388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549946910	chr4:122280396-122280397	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78932279	chr4:122280420-122280421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535730240	chr4:122280449-122280450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574491286	chr4:122280482-122280483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558587314	chr4:122280524-122280525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568727439	chr4:122280536-122280537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537974078	chr4:122280623-122280624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369340687	chr4:122280788-122280789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs70950808	chr4:122280789-122280790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34785724	chr4:122280800-122280801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs6845337	chr4:122280802-122280803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7687450	chr4:122280804-122280805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540418915	chr4:122280806-122280807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553644358	chr4:122280808-122280809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6845821	chr4:122280810-122280811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368381339	chr4:122280813-122280814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs6845341	chr4:122280814-122280815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113721473	chr4:122280824-122280825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12499270	chr4:122280826-122280827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12506829	chr4:122280834-122280835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12499272	chr4:122280840-122280841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562127494	chr4:122280845-122280846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12506830	chr4:122280846-122280847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530792749	chr4:122280848-122280849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544325752	chr4:122280850-122280851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs193271510	chr4:122280858-122280859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200247363	chr4:122280859-122280860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35100097	chr4:122280872-122280873	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs34493232	chr4:122280877-122280878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs115139933	chr4:122280888-122280889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529607733	chr4:122280915-122280916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35601283	chr4:122280916-122280917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371940795	chr4:122280917-122280918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549396538	chr4:122280918-122280919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146561335	chr4:122280926-122280927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202056987	chr4:122280944-122280945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199750312	chr4:122280945-122280946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114394475	chr4:122280950-122280951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144779787	chr4:122280960-122280961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28663623	chr4:122280961-122280962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122279000-122280800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr4:122279200-122280400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:122279400-122280200	Enhancers	NHEK	skin
4	chr4:122279400-122280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:122279400-122280400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:122279400-122280600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:122279400-122280600	Enhancers	HMEC	breast
8	chr4:122279600-122280400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:122279800-122280200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:122279800-122280400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:122279800-122280400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:122279800-122280400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:122280200-122281400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:122280200-122281600	Weak transcription	NHEK	skin
15	chr4:122280400-122280600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr4:122280400-122281400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:122280400-122281400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:122280400-122281600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:122280400-122281600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:122280600-122281000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:122280600-122281000	Weak transcription	HMEC	breast
22	chr4:122280600-122281200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:122280800-122281200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:122281000-122281200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:122281000-122282200	Enhancers	HMEC	breast
26	chr4:122281200-122282200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:122281200-122282200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr4:122281200-122283400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:122281400-122282200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:122281400-122282200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr4:122281600-122281800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr4:122281600-122282200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:122281600-122282200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:122281600-122282200	Enhancers	NHEK	skin
35	chr4:122282200-122294000	Weak transcription	HMEC	breast
36	chr4:122282200-122295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:122283400-122284000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:122287600-122288400	Enhancers	Left Ventricle	heart

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