Variant report

Variant	nsv436954
Chromosome Location	chr4:89984278-90003086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:89992679..89996813-chr4:89997932..90000430,5	K562	blood:
2	chr4:89978596..89980145-chr4:89983083..89985851,2	K562	blood:
3	chr4:89994149..89996118-chr4:90010603..90012970,2	K562	blood:
4	chr4:89992679..89996813-chr4:89997932..90000430,5	K562	blood:
5	chr4:89995871..89997709-chrX:150199858..150202433,2	MCF-7	breast:

Extended variants
information (count: 581 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552104470	chr4:89985253-89985254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528719751	chr4:89985293-89985294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs72668111	chr4:89985301-89985302	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs72668112	chr4:89985331-89985332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552768954	chr4:89985360-89985361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574550828	chr4:89985415-89985416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149857427	chr4:89985458-89985459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79048757	chr4:89985478-89985479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs8180333	chr4:89985491-89985492	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575405151	chr4:89985542-89985543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545825568	chr4:89985551-89985552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530641468	chr4:89985556-89985557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13115364	chr4:89985679-89985680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs572998656	chr4:89985706-89985707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs28547072	chr4:89985732-89985733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs28500558	chr4:89985751-89985752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116455872	chr4:89985769-89985770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559731388	chr4:89985811-89985812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565364647	chr4:89985837-89985838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569077515	chr4:89985908-89985909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201842809	chr4:89985924-89985925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs137980975	chr4:89985925-89985926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs372492008	chr4:89985928-89985929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530307181	chr4:89985936-89985937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542206698	chr4:89985943-89985944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183871139	chr4:89986079-89986080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs80224034	chr4:89986080-89986081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2068207	chr4:89986148-89986149	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs6853075	chr4:89986284-89986285	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs1398943	chr4:89986288-89986289	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547052156	chr4:89986289-89986290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568201690	chr4:89986325-89986326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs6857969	chr4:89986326-89986327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs556839350	chr4:89986346-89986347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112761589	chr4:89986416-89986417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73845243	chr4:89986442-89986443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539719548	chr4:89986445-89986446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557816084	chr4:89986480-89986481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372982322	chr4:89986504-89986505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556958236	chr4:89986608-89986609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370272373	chr4:89986660-89986661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540371710	chr4:89986668-89986669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373745247	chr4:89986720-89986721	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573608032	chr4:89986721-89986722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575263972	chr4:89986728-89986729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542416953	chr4:89986763-89986764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139209174	chr4:89986878-89986879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187982921	chr4:89986887-89986888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs149875676	chr4:89986893-89986894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564171894	chr4:89986951-89986952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
lymphocytic leukemia	21291569	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
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	CNVD
Acute monocytic leukemia	16498392	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Parkinson disease	20877625	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Obesity	20622171	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89985200-89987600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:89985600-89986200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:89986000-89986400	Enhancers	NHDF-Ad	bronchial
4	chr4:89986000-89986800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:89986400-89988400	Weak transcription	NHDF-Ad	bronchial
6	chr4:89986800-89987800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:89987600-89988000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:89987800-89989000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:89988000-89989400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:89988200-89988600	Enhancers	Brain Anterior Caudate	brain
11	chr4:89988200-89988800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:89988200-89990200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:89988400-89988600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:89988400-89989000	Enhancers	NHDF-Ad	bronchial
15	chr4:89988600-89988800	Enhancers	Osteobl	bone
16	chr4:89990000-89991400	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:89990400-89990600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:89990600-89991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:89990600-89991400	Enhancers	GM12878-XiMat	blood
20	chr4:89990600-89991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr4:89990800-89991400	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:89991000-89991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:89991400-89992400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:89992200-89992800	Enhancers	NHEK	skin
25	chr4:89992400-89992600	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:89992400-89992600	Enhancers	Pancreas	Pancrea
27	chr4:89992400-89992800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:89992400-89992800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:89992400-89992800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:89992400-89992800	Enhancers	HMEC	breast
31	chr4:89992600-89993800	Weak transcription	Pancreas	Pancrea
32	chr4:89993800-89994400	Enhancers	Pancreas	Pancrea
33	chr4:89993800-89994400	Enhancers	HSMMtube	muscle
34	chr4:89993800-89994800	Enhancers	Fetal Heart	heart
35	chr4:89994000-89994400	Enhancers	Gastric	stomach
36	chr4:89994000-89995800	Enhancers	Fetal Muscle Leg	muscle
37	chr4:89994400-89994800	Weak transcription	Pancreas	Pancrea
38	chr4:89994800-89996400	Enhancers	Pancreas	Pancrea
39	chr4:89996400-90009800	Weak transcription	Pancreas	Pancrea
40	chr4:90001600-90003200	Enhancers	GM12878-XiMat	blood
41	chr4:90001800-90002000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:90001800-90002200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:90002400-90003000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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