Variant report

Variant	esv3361950
Chromosome Location	chr4:81990778-81992826
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:81990984..81991561-chr4:83122784..83123414,2	K562	blood:
2	chr4:81990594..81991584-chr4:82181118..82182501,8	MCF-7	breast:
3	chr4:81990848..81991586-chr4:82272501..82273236,3	K562	blood:
4	chr4:81990624..81991565-chr4:82272517..82273470,4	MCF-7	breast:
5	chr4:81990998..81991602-chr4:82272501..82273357,5	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527591049	chr4:81990797-81990798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2685466	chr4:81990810-81990811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564324503	chr4:81990876-81990877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140401847	chr4:81990878-81990879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532987831	chr4:81990879-81990880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549548793	chr4:81990893-81990894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7692471	chr4:81990901-81990902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75510140	chr4:81990938-81990939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548567756	chr4:81990953-81990954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs149256429	chr4:81990954-81990955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369762498	chr4:81990980-81990981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554142645	chr4:81990990-81990991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2685465	chr4:81991016-81991017	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1495639	chr4:81991027-81991028	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184924986	chr4:81991036-81991037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576253601	chr4:81991044-81991045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541905088	chr4:81991050-81991051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79298551	chr4:81991064-81991065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188646309	chr4:81991097-81991098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192338291	chr4:81991114-81991115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564257438	chr4:81991120-81991121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533539879	chr4:81991147-81991148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs1845719	chr4:81991150-81991151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1987331	chr4:81991163-81991164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184452317	chr4:81991173-81991174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563095204	chr4:81991187-81991188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189611621	chr4:81991232-81991233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548359366	chr4:81991297-81991298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543389194	chr4:81991371-81991372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568463938	chr4:81991372-81991373	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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:81972000-81990800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:81973800-81990800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr4:81983800-81990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:81986800-81990800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:81990600-81991400	Enhancers	NHDF-Ad	bronchial
6	chr4:81990800-81991000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:81990800-81991200	Enhancers	Ovary	ovary
8	chr4:81990800-81991200	Enhancers	NHLF	lung
9	chr4:81990800-81991400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:81990800-81991400	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:81990800-81991400	Enhancers	Colon Smooth Muscle	Colon
12	chr4:81990800-81991400	Enhancers	Fetal Brain Female	brain
13	chr4:81990800-81991400	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:81990800-81991400	Enhancers	Stomach Smooth Muscle	stomach

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