Variant report

Variant	nsv516526
Chromosome Location	chr4:143796487-143800361
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	chr4:143795116..143796880-chr4:143868819..143870461,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2874907	chr4:143796487-143796488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530587725	chr4:143796492-143796493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547473427	chr4:143796493-143796494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549101234	chr4:143796525-143796526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559835311	chr4:143796544-143796545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571770358	chr4:143796597-143796598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188537923	chr4:143796610-143796611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563830026	chr4:143796631-143796632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181383450	chr4:143796729-143796730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529487209	chr4:143796731-143796732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185995430	chr4:143796732-143796733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563179778	chr4:143796760-143796761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533387385	chr4:143796799-143796800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532833730	chr4:143796808-143796809	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377252254	chr4:143796817-143796818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566980407	chr4:143796831-143796832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143030219	chr4:143796845-143796846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549456315	chr4:143796914-143796915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567392796	chr4:143796924-143796925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190951738	chr4:143796971-143796972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556215210	chr4:143796984-143796985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114475197	chr4:143797006-143797007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184008642	chr4:143797085-143797086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553309129	chr4:143797093-143797094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571810912	chr4:143797163-143797164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34280160	chr4:143797206-143797207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544782172	chr4:143797210-143797211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187004735	chr4:143797211-143797212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561026957	chr4:143797212-143797213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs142453988	chr4:143797217-143797218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544765208	chr4:143797236-143797237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563191682	chr4:143797245-143797246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551337901	chr4:143797249-143797250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569888612	chr4:143797250-143797251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7686430	chr4:143797271-143797272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560520530	chr4:143797277-143797278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536915760	chr4:143797290-143797291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190897402	chr4:143797320-143797321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567729620	chr4:143797324-143797325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537664772	chr4:143797349-143797350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549910259	chr4:143797400-143797401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571216554	chr4:143797445-143797446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567076292	chr4:143797568-143797569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113708235	chr4:143797587-143797588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140214922	chr4:143797590-143797591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546095608	chr4:143797627-143797628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564731037	chr4:143797686-143797687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182790903	chr4:143797687-143797688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536228498	chr4:143797723-143797724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187438361	chr4:143797735-143797736	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Intellectual disability	22102821	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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	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
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Mental retardation	17901693	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22048815	CNVD
Autism	22241247	CNVD
Glioblastoma multiforme	22286061	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143795000-143796600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:143796600-143798000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr4:143797200-143797400	Enhancers	Osteobl	bone

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