Variant report

Variant	esv3322194
Chromosome Location	chr4:103328029-103333627
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	chr4:103321154..103323341-chr4:103327192..103329685,2	K562	blood:
2	chr4:103307851..103309753-chr4:103332388..103335045,2	MCF-7	breast:

Extended variants
information (count: 506 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:506 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562050870	chr4:103328062-103328063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373082477	chr4:103328099-103328100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201232550	chr4:103328102-103328103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112655516	chr4:103328120-103328121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547894426	chr4:103328157-103328158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539688414	chr4:103328160-103328161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559544303	chr4:103328179-103328180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs61373170	chr4:103328189-103328190	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558329462	chr4:103328202-103328203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141109021	chr4:103328210-103328211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536926621	chr4:103328262-103328263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571224475	chr4:103328322-103328323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181932289	chr4:103328346-103328347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149842012	chr4:103328381-103328382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534293027	chr4:103328392-103328393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145856488	chr4:103328394-103328395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369443777	chr4:103328414-103328415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs55804949	chr4:103328433-103328434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs540064082	chr4:103328512-103328513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556881905	chr4:103328529-103328530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558378230	chr4:103328539-103328540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs375820246	chr4:103328554-103328555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs555556636	chr4:103328613-103328614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs58546232	chr4:103328620-103328621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs115074457	chr4:103328636-103328637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573984272	chr4:103328644-103328645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74437757	chr4:103328672-103328673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73837204	chr4:103328691-103328692	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533265639	chr4:103328696-103328697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544833171	chr4:103328760-103328761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563125684	chr4:103328772-103328773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530584308	chr4:103328902-103328903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116738567	chr4:103328980-103328981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567401133	chr4:103328997-103328998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148987625	chr4:103329022-103329023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4698852	chr4:103329039-103329040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs138361221	chr4:103329085-103329086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7683109	chr4:103329088-103329089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs11097779	chr4:103329111-103329112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570286216	chr4:103329155-103329156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72928344	chr4:103329165-103329166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs556037738	chr4:103329169-103329170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574242014	chr4:103329174-103329175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112319914	chr4:103329202-103329203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553072494	chr4:103329203-103329204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578074929	chr4:103329204-103329205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545113641	chr4:103329222-103329223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375586551	chr4:103329253-103329254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562477893	chr4:103329282-103329283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533035540	chr4:103329288-103329289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
myeloid cancer	21057493	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103323400-103328400	Weak transcription	Psoas Muscle	Psoas
2	chr4:103325000-103341600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:103325600-103328600	Enhancers	Hela-S3	cervix
4	chr4:103327400-103332200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:103328000-103328200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:103328000-103332200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:103328200-103332200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:103328400-103328600	Enhancers	Psoas Muscle	Psoas
9	chr4:103328600-103332200	Weak transcription	Hela-S3	cervix
10	chr4:103332200-103332600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr4:103332200-103333400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:103332200-103333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:103332200-103333600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr4:103332200-103333600	Enhancers	Hela-S3	cervix
15	chr4:103332200-103333600	Enhancers	NHDF-Ad	bronchial
16	chr4:103332400-103333000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr4:103332600-103333200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr4:103333000-103333600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:103333200-103333600	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr4:103333400-103337800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:103333600-103334800	Weak transcription	Hela-S3	cervix

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