Variant report

Variant	nsv964304
Chromosome Location	chr4:102411214-102432546
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	chr4:102432296..102434415-chr4:102447007..102448829,2	MCF-7	breast:

Extended variants
information (count: 492 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558803977	chr4:102411241-102411242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs71596324	chr4:102411251-102411252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs55977226	chr4:102411252-102411253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577256329	chr4:102411272-102411273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554196786	chr4:102411275-102411276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9307258	chr4:102411353-102411354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs151121793	chr4:102411364-102411365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189128085	chr4:102411369-102411370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575776907	chr4:102411392-102411393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111596639	chr4:102411402-102411403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543068264	chr4:102411406-102411407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560937817	chr4:102411407-102411408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141033265	chr4:102411423-102411424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570604684	chr4:102411459-102411460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150254581	chr4:102411467-102411468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565526491	chr4:102411481-102411482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532575476	chr4:102411499-102411500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528142962	chr4:102411500-102411501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568632719	chr4:102411504-102411505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145757954	chr4:102411505-102411506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548248923	chr4:102411515-102411516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193051650	chr4:102411516-102411517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140637456	chr4:102411517-102411518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558580380	chr4:102411542-102411543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113057308	chr4:102411564-102411565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546312604	chr4:102411577-102411578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11934860	chr4:102411582-102411583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565770347	chr4:102411606-102411607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538057318	chr4:102411617-102411618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568942912	chr4:102411767-102411768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536324025	chr4:102411784-102411785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113154609	chr4:102411805-102411806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564505391	chr4:102411866-102411867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189112862	chr4:102411868-102411869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538073251	chr4:102411916-102411917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543177840	chr4:102411945-102411946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144948449	chr4:102411956-102411957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111917186	chr4:102411993-102411994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113087023	chr4:102411994-102411995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113472669	chr4:102411995-102411996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113231166	chr4:102412008-102412009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573204814	chr4:102412029-102412030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540580016	chr4:102412052-102412053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565452859	chr4:102412088-102412089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577093376	chr4:102412090-102412091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544481523	chr4:102412117-102412118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562773433	chr4:102412131-102412132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72920760	chr4:102412147-102412148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs548024953	chr4:102412148-102412149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138178283	chr4:102412162-102412163	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
Hirschsprung''s Disease	21712996	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
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102397800-102422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:102421800-102422200	Enhancers	NHEK	skin
3	chr4:102422000-102422400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:102422000-102423000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:102422000-102423200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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