Variant report

Variant	nsv594717
Chromosome Location	chr4:80361164-80380587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 551 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:551 , 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	rs367823271	chr4:80363884-80363885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183900863	chr4:80363891-80363892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563295370	chr4:80363906-80363907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531653775	chr4:80363942-80363943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372579258	chr4:80363949-80363950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377229252	chr4:80363973-80363974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs186671370	chr4:80363992-80363993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570550717	chr4:80364226-80364227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370576676	chr4:80364305-80364306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531278894	chr4:80364389-80364390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539495293	chr4:80364412-80364413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544943060	chr4:80364432-80364433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374606327	chr4:80364517-80364518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75079248	chr4:80364524-80364525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536181625	chr4:80364592-80364593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191470142	chr4:80364606-80364607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572646091	chr4:80364611-80364612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534879991	chr4:80364729-80364730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35912919	chr4:80364732-80364733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557890112	chr4:80364736-80364737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370606123	chr4:80364746-80364747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530556927	chr4:80364821-80364822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183596197	chr4:80364884-80364885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368613062	chr4:80364893-80364894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550846961	chr4:80364940-80364941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573934031	chr4:80364951-80364952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138695925	chr4:80364968-80364969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542133647	chr4:80364974-80364975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561828277	chr4:80364998-80364999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527519408	chr4:80365041-80365042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371433264	chr4:80365054-80365055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374871669	chr4:80365065-80365066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72860756	chr4:80365076-80365077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374903722	chr4:80365106-80365107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564247828	chr4:80365131-80365132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549888283	chr4:80365145-80365146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569661964	chr4:80365205-80365206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529719718	chr4:80365226-80365227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145481281	chr4:80365256-80365257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549691423	chr4:80365343-80365344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367606357	chr4:80365349-80365350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187148236	chr4:80365366-80365367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566255921	chr4:80365482-80365483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534939708	chr4:80365518-80365519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538228630	chr4:80365520-80365521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561056066	chr4:80365578-80365579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557951961	chr4:80365582-80365583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192870929	chr4:80365598-80365599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs115047551	chr4:80365634-80365635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6838184	chr4:80365765-80365766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:79)

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
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	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
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	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
Chronic lymphocytic leukemia	21670202	CNVD
primary effusion lymphomas	17116491	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelodysplastic syndrome	18508791	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80363800-80364000	Enhancers	NHDF-Ad	bronchial
2	chr4:80364200-80365800	Weak transcription	NHDF-Ad	bronchial
3	chr4:80365800-80366800	Enhancers	NHDF-Ad	bronchial
4	chr4:80366200-80366800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:80366400-80366800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:80366400-80366800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr4:80366400-80367000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:80366600-80367000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:80366600-80367000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:80366600-80367000	Enhancers	Fetal Muscle Leg	muscle
11	chr4:80366600-80367400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:80366800-80367000	Flanking Active TSS	Aorta	Aorta
13	chr4:80366800-80367200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr4:80366800-80367600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr4:80366800-80367600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:80366800-80368600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr4:80367200-80367600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:80367400-80367800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr4:80367400-80368000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:80367600-80367800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:80367600-80367800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr4:80367600-80367800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr4:80367800-80368000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr4:80367800-80368000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:80367800-80371400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:80368000-80368400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:80368400-80368800	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:80368600-80368800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:80368600-80369000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:80368600-80369000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:80371400-80371800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr4:80371800-80374400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr4:80374400-80374800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:80374400-80375200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:80374400-80375200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:80374600-80375000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr4:80374800-80375200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:80375000-80375400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr4:80375200-80385000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:80375800-80376800	Enhancers	Fetal Heart	heart

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