Variant report

Variant	esv3345195
Chromosome Location	chr4:103329354-103333302
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: 438 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571172828	chr4:103329378-103329379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148290479	chr4:103329388-103329389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550701624	chr4:103329416-103329417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568934299	chr4:103329423-103329424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575934026	chr4:103329429-103329430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561419870	chr4:103329469-103329470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11730944	chr4:103329490-103329491	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs186239272	chr4:103329569-103329570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202091803	chr4:103329639-103329640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72229594	chr4:103329649-103329650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567978942	chr4:103329657-103329658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56879998	chr4:103329668-103329669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534992784	chr4:103329716-103329717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189900958	chr4:103329736-103329737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577636709	chr4:103329739-103329740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538601490	chr4:103329743-103329744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557044219	chr4:103329750-103329751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575322289	chr4:103329753-103329754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542457256	chr4:103329754-103329755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13110428	chr4:103329779-103329780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181413190	chr4:103329798-103329799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199910051	chr4:103329814-103329815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540181698	chr4:103329822-103329823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565142077	chr4:103329831-103329832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs28587212	chr4:103329863-103329864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111205393	chr4:103329895-103329896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531724251	chr4:103329899-103329900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111216554	chr4:103329900-103329901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111216523	chr4:103329903-103329904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370365217	chr4:103329928-103329929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562620299	chr4:103329935-103329936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs199633177	chr4:103329941-103329942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200702131	chr4:103329944-103329945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13110691	chr4:103329956-103329957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13138322	chr4:103329965-103329966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115490987	chr4:103329967-103329968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202096549	chr4:103329970-103329971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs13138330	chr4:103329971-103329972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200353880	chr4:103329989-103329990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201752787	chr4:103329998-103329999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190039876	chr4:103330003-103330004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145029890	chr4:103330004-103330005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550944567	chr4:103330016-103330017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111205394	chr4:103330021-103330022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546979968	chr4:103330022-103330023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571568195	chr4:103330023-103330024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538686640	chr4:103330028-103330029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111216436	chr4:103330031-103330032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199497962	chr4:103330032-103330033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556931536	chr4:103330033-103330034	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:15 , 50 per page) page: 1

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

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