Variant report

Variant	nsv1031806
Chromosome Location	chr4:130152860-130178330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:130153805..130154312-chr4:130169574..130170167,2	MCF-7	breast:
2	chr4:130166365..130168857-chr4:130168927..130171485,2	MCF-7	breast:
3	chr4:130139675..130140190-chr4:130168106..130168836,2	MCF-7	breast:
4	chr4:130166365..130168857-chr4:130168927..130171485,2	MCF-7	breast:
5	chr4:130153805..130154312-chr4:130169574..130170167,2	MCF-7	breast:

Extended variants
information (count: 706 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:706 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562105697	chr4:130152861-130152862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181554505	chr4:130152972-130152973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186040207	chr4:130152989-130152990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535983657	chr4:130152993-130152994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553980908	chr4:130152994-130152995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs55667141	chr4:130153011-130153012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142383295	chr4:130153048-130153049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151311342	chr4:130153060-130153061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190453602	chr4:130153106-130153107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36054697	chr4:130153204-130153205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs397772593	chr4:130153221-130153222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73848973	chr4:130153230-130153231	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140602899	chr4:130153344-130153345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115652943	chr4:130153421-130153422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377732721	chr4:130153471-130153472	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547933249	chr4:130153494-130153495	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13129431	chr4:130153546-130153547	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs72687167	chr4:130153609-130153610	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs376690094	chr4:130153633-130153634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75149538	chr4:130153636-130153637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs13129839	chr4:130153690-130153691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536992592	chr4:130153699-130153700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548854046	chr4:130153708-130153709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567509765	chr4:130153771-130153772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs13130222	chr4:130153779-130153780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs553102456	chr4:130153840-130153841	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs566056989	chr4:130153854-130153855	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs112413488	chr4:130153855-130153856	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539924939	chr4:130153874-130153875	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs554938152	chr4:130153916-130153917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs373566176	chr4:130153935-130153936	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs56268381	chr4:130153962-130153963	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs576502494	chr4:130153985-130153986	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs544169961	chr4:130154054-130154055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556106391	chr4:130154155-130154156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574230843	chr4:130154156-130154157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145911525	chr4:130154198-130154199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559865562	chr4:130154219-130154220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183398959	chr4:130154273-130154274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs146418431	chr4:130154286-130154287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77414232	chr4:130154318-130154319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537732913	chr4:130154334-130154335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200767892	chr4:130154376-130154377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541054343	chr4:130154409-130154410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559291771	chr4:130154469-130154470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558047355	chr4:130154548-130154549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79018087	chr4:130154569-130154570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577734527	chr4:130154604-130154605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574816801	chr4:130154607-130154608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149273582	chr4:130154622-130154623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	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
Olfactory neuroblastoma	18408657	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Schizophrenia	20967226	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130152800-130153400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:130152800-130154200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:130153200-130154000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:130153400-130153600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:130153400-130153800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:130153400-130153800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:130153400-130153800	Enhancers	Brain Germinal Matrix	brain
8	chr4:130153400-130153800	Enhancers	Osteobl	bone
9	chr4:130153400-130154000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:130153400-130154400	Enhancers	NHDF-Ad	bronchial
11	chr4:130153600-130153800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:130153600-130153800	Enhancers	Right Atrium	heart
13	chr4:130153600-130154000	Enhancers	Aorta	Aorta
14	chr4:130153600-130154000	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr4:130153800-130154000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:130154000-130154400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:130154000-130157000	Weak transcription	Aorta	Aorta
18	chr4:130154000-130159800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:130154400-130159800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:130154800-130160200	Weak transcription	Small Intestine	intestine
21	chr4:130159800-130160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:130159800-130160800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:130160000-130160600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:130160000-130160800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:130160000-130162400	Enhancers	Adipose Nuclei	Adipose
26	chr4:130160000-130162400	Enhancers	Liver	Liver
27	chr4:130160200-130160400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:130160200-130160600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:130160200-130160600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:130160200-130160600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr4:130160200-130160600	Enhancers	Left Ventricle	heart
32	chr4:130160200-130160600	Enhancers	Right Atrium	heart
33	chr4:130160200-130160600	Enhancers	Right Ventricle	heart
34	chr4:130160200-130160600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr4:130160200-130160600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr4:130160200-130160800	Enhancers	Muscle Satellite Cultured Cells	--
37	chr4:130160200-130160800	Enhancers	Small Intestine	intestine
38	chr4:130160200-130161800	Enhancers	Osteobl	bone
39	chr4:130160200-130162400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:130160200-130162600	Enhancers	NHDF-Ad	bronchial
41	chr4:130160400-130160800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr4:130160400-130160800	Enhancers	Fetal Kidney	kidney
43	chr4:130160600-130161400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:130160600-130161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:130160600-130161800	Weak transcription	Right Ventricle	heart
46	chr4:130160600-130161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:130160600-130162000	Weak transcription	Left Ventricle	heart
48	chr4:130160600-130163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr4:130160800-130162600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:130160800-130163800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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