Variant report

Variant	esv1000585
Chromosome Location	chr4:82299388-82302779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82296919..82298708-chr4:82299908..82301828,2	MCF-7	breast:

Extended variants
information (count: 115 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113097909	chr4:82299389-82299390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546014022	chr4:82299459-82299460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565685505	chr4:82299488-82299489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62303573	chr4:82299527-82299528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557559810	chr4:82299546-82299547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577712533	chr4:82299549-82299550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77384218	chr4:82299550-82299551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76432166	chr4:82299552-82299553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531377517	chr4:82299613-82299614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190595508	chr4:82299624-82299625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182883849	chr4:82299647-82299648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187186842	chr4:82299664-82299665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1551236	chr4:82299687-82299688	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs150995630	chr4:82299691-82299692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192178462	chr4:82299746-82299747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541454199	chr4:82299754-82299755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564403203	chr4:82299767-82299768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs386676578	chr4:82299778-82299779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34165514	chr4:82299815-82299816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533502891	chr4:82299894-82299895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs549676124	chr4:82299903-82299904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76600404	chr4:82299975-82299976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182636157	chr4:82300012-82300013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115554501	chr4:82300053-82300054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566021948	chr4:82300074-82300075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528073051	chr4:82300075-82300076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140830271	chr4:82300082-82300083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187806566	chr4:82300085-82300086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190216726	chr4:82300090-82300091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556449480	chr4:82300123-82300124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569918393	chr4:82300124-82300125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182527063	chr4:82300216-82300217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555629299	chr4:82300284-82300285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546673135	chr4:82300288-82300289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76226842	chr4:82300329-82300330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35302859	chr4:82300334-82300335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187519411	chr4:82300363-82300364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558149196	chr4:82300376-82300377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371017507	chr4:82300378-82300379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374219130	chr4:82300531-82300532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538945063	chr4:82300560-82300561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578013036	chr4:82300562-82300563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374821513	chr4:82300619-82300620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563436051	chr4:82300624-82300625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529091578	chr4:82300689-82300690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559170213	chr4:82300738-82300739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150129507	chr4:82300751-82300752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138476881	chr4:82300776-82300777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551053113	chr4:82300789-82300790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141199788	chr4:82300798-82300799	Weak transcription 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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82297200-82303000	Enhancers	Fetal Intestine Small	intestine
2	chr4:82297800-82302800	Enhancers	Fetal Intestine Large	intestine
3	chr4:82298000-82300600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:82298400-82299800	Enhancers	Fetal Lung	lung
5	chr4:82298600-82300400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:82299200-82300600	Enhancers	Fetal Kidney	kidney
7	chr4:82299200-82300800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr4:82299400-82300000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:82299400-82300000	Enhancers	NHDF-Ad	bronchial
10	chr4:82299800-82301000	Weak transcription	Fetal Lung	lung
11	chr4:82300000-82301000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:82300400-82300600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:82300600-82301000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:82300600-82301000	Weak transcription	Fetal Kidney	kidney
15	chr4:82300800-82301200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:82301000-82301600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:82301000-82301800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:82301000-82301800	Enhancers	Fetal Heart	heart
19	chr4:82301000-82301800	Enhancers	Fetal Kidney	kidney
20	chr4:82301000-82301800	Enhancers	Stomach Mucosa	stomach
21	chr4:82301200-82301400	Enhancers	Fetal Lung	lung
22	chr4:82301200-82302000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr4:82301200-82302800	Enhancers	Duodenum Mucosa	Duodenum

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