Variant report

Variant	esv2763370
Chromosome Location	chr4:81800466-81866997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:81844556..81846296-chr4:81846383..81848047,2	K562	blood:
2	chr4:81794667..81796938-chr4:81800579..81802304,2	K562	blood:
3	chr4:81844556..81846296-chr4:81846383..81848047,2	K562	blood:

Extended variants
information (count: 1019 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1019 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531473516	chr4:81806439-81806440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77206437	chr4:81806452-81806453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61132710	chr4:81806497-81806498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1118923	chr4:81806514-81806515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs192092890	chr4:81806538-81806539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570369236	chr4:81806566-81806567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs550117065	chr4:81806617-81806618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146305144	chr4:81806629-81806630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138225535	chr4:81806631-81806632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184033787	chr4:81806692-81806693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554739120	chr4:81806703-81806704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34295830	chr4:81806723-81806724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574903840	chr4:81806730-81806731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149530411	chr4:81806771-81806772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539933773	chr4:81806786-81806787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13435389	chr4:81817037-81817038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78151515	chr4:81817039-81817040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs578074865	chr4:81817040-81817041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553695381	chr4:81817047-81817048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138428451	chr4:81817066-81817067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs112112955	chr4:81817248-81817249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563366752	chr4:81817260-81817261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75882084	chr4:81817286-81817287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576691716	chr4:81817350-81817351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372431307	chr4:81817351-81817352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149249019	chr4:81817362-81817363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376966488	chr4:81817366-81817367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559947173	chr4:81817378-81817379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116310803	chr4:81817402-81817403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182912921	chr4:81817403-81817404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62302222	chr4:81817429-81817430	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560947434	chr4:81817446-81817447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189131783	chr4:81817459-81817460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376581642	chr4:81817505-81817506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373108978	chr4:81817506-81817507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550667045	chr4:81817552-81817553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs377672371	chr4:81817573-81817574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536213552	chr4:81817635-81817636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148592741	chr4:81817651-81817652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138609011	chr4:81817680-81817681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs386357102	chr4:81817681-81817682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79626483	chr4:81817703-81817704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538542409	chr4:81817709-81817710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558745323	chr4:81817814-81817815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547223128	chr4:81817869-81817870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575320400	chr4:81817932-81817933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs191788305	chr4:81817971-81817972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556997287	chr4:81817984-81817985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573698261	chr4:81818019-81818020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370563988	chr4:81818043-81818044	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Myelodysplastic syndrome	18508791	CNVD
abnormal development	18461090	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81806400-81806800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr4:81817000-81819200	Enhancers	GM12878-XiMat	blood
3	chr4:81818600-81819000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:81819200-81819400	ZNF genes & repeats	GM12878-XiMat	blood
5	chr4:81822200-81822400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:81822400-81823600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:81823600-81825000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:81833600-81833800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:81834400-81835200	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:81834400-81835200	Enhancers	Liver	Liver
11	chr4:81834400-81835800	Enhancers	GM12878-XiMat	blood
12	chr4:81835200-81837800	Weak transcription	Liver	Liver
13	chr4:81837800-81838400	Enhancers	Liver	Liver
14	chr4:81838400-81840000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr4:81839000-81840000	Enhancers	NHEK	skin
16	chr4:81839200-81839600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:81839200-81840000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:81839600-81844200	Weak transcription	Ovary	ovary
19	chr4:81840000-81842400	Weak transcription	NHEK	skin
20	chr4:81840000-81842800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:81842400-81842800	Enhancers	Placenta	Placenta
22	chr4:81842400-81842800	Enhancers	NHEK	skin
23	chr4:81842800-81843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:81842800-81847400	Weak transcription	NHEK	skin
25	chr4:81844200-81844600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr4:81844200-81844600	Enhancers	Ovary	ovary
27	chr4:81844600-81847600	Weak transcription	Ovary	ovary
28	chr4:81846400-81846600	Enhancers	GM12878-XiMat	blood
29	chr4:81846600-81847000	Enhancers	Primary B cells from cord blood	blood
30	chr4:81846600-81847600	Weak transcription	GM12878-XiMat	blood
31	chr4:81846800-81853200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr4:81847200-81848400	Enhancers	NHDF-Ad	bronchial
33	chr4:81847400-81848200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:81847400-81848400	Enhancers	NHEK	skin
35	chr4:81847600-81848000	Enhancers	GM12878-XiMat	blood
36	chr4:81847600-81848200	Enhancers	HMEC	breast
37	chr4:81847600-81849000	Enhancers	Ovary	ovary
38	chr4:81848400-81851800	Weak transcription	NHDF-Ad	bronchial
39	chr4:81848600-81848800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr4:81848800-81850400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:81849000-81851800	Weak transcription	Ovary	ovary
42	chr4:81850400-81851400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr4:81851600-81852200	Enhancers	Duodenum Mucosa	Duodenum
44	chr4:81851800-81853000	Enhancers	Fetal Muscle Leg	muscle
45	chr4:81851800-81853000	Enhancers	NHDF-Ad	bronchial
46	chr4:81851800-81853200	Enhancers	Ovary	ovary
47	chr4:81864000-81864400	Enhancers	NHDF-Ad	bronchial
48	chr4:81864400-81867600	Weak transcription	NHDF-Ad	bronchial
49	chr4:81866200-81866400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:81866200-81866400	Enhancers	Ovary	ovary

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