Variant report

Variant	nsv514237
Chromosome Location	chr4:106710207-106716663
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	chr4:106716229..106719180-chr4:106725111..106727135,2	MCF-7	breast:
2	chr4:106707269..106709728-chr4:106711116..106713175,2	MCF-7	breast:

Extended variants
information (count: 213 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185240680	chr4:106710263-106710264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568086631	chr4:106710270-106710271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190185879	chr4:106710351-106710352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558383146	chr4:106710364-106710365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72673812	chr4:106710454-106710455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576828144	chr4:106710535-106710536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539694639	chr4:106710551-106710552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143985967	chr4:106710552-106710553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139922752	chr4:106710610-106710611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542094285	chr4:106710650-106710651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72673813	chr4:106710653-106710654	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs80281217	chr4:106710737-106710738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541374295	chr4:106710873-106710874	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141812721	chr4:106710884-106710885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533463783	chr4:106710896-106710897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373085582	chr4:106710933-106710934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146279236	chr4:106710952-106710953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559974599	chr4:106710960-106710961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531506977	chr4:106711043-106711044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs9996545	chr4:106711068-106711069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561480091	chr4:106711149-106711150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548520568	chr4:106711160-106711161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376282148	chr4:106711163-106711164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568322948	chr4:106711241-106711242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181372359	chr4:106711314-106711315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547369275	chr4:106711364-106711365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573380066	chr4:106711366-106711367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374864692	chr4:106711376-106711377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527406707	chr4:106711380-106711381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539501889	chr4:106711399-106711400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112819759	chr4:106711416-106711417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116817670	chr4:106711424-106711425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535616058	chr4:106711462-106711463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555649454	chr4:106711480-106711481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185695461	chr4:106711545-106711546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs13116787	chr4:106711603-106711604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541113651	chr4:106711621-106711622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114815407	chr4:106711649-106711650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578054736	chr4:106711652-106711653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543956928	chr4:106711661-106711662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563739579	chr4:106711684-106711685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60822027	chr4:106711697-106711698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531547260	chr4:106711868-106711869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542001178	chr4:106711906-106711907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72673814	chr4:106711993-106711994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190011150	chr4:106711994-106711995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368954826	chr4:106712048-106712049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552005612	chr4:106712091-106712092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180911932	chr4:106712104-106712105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372444596	chr4:106712129-106712130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Cognitive impairment	21505072	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106692400-106729400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:106694000-106718200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:106695200-106757000	Weak transcription	Primary B cells from cord blood	blood
4	chr4:106697200-106725800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:106697800-106723200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:106698000-106725200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:106698200-106719200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:106703200-106755600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:106705600-106713400	Weak transcription	HSMM	muscle
10	chr4:106710400-106711000	Weak transcription	Left Ventricle	heart
11	chr4:106710600-106710800	Enhancers	Pancreas	Pancrea
12	chr4:106710600-106711000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr4:106714200-106725800	Weak transcription	H1 Cell Line	embryonic stem cell

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