Variant report

Variant	nsv967699
Chromosome Location	chr4:171766688-171772927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565352775	chr4:171766707-171766708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557225741	chr4:171766729-171766730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541595950	chr4:171766740-171766741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189444351	chr4:171766752-171766753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530274828	chr4:171766770-171766771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182237622	chr4:171766785-171766786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570287420	chr4:171766801-171766802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7669155	chr4:171766823-171766824	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs372116996	chr4:171766828-171766829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550982327	chr4:171766840-171766841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570974185	chr4:171766845-171766846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376118108	chr4:171766895-171766896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141559890	chr4:171766918-171766919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs147025635	chr4:171766944-171766945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7669543	chr4:171766985-171766986	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575056479	chr4:171770974-171770975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539467500	chr4:171770991-171770992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552956104	chr4:171771003-171771004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553077073	chr4:171771053-171771054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183712753	chr4:171771063-171771064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567378791	chr4:171771119-171771120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572911329	chr4:171771127-171771128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572816443	chr4:171771131-171771132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs541622041	chr4:171771132-171771133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368974330	chr4:171771136-171771137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561925210	chr4:171771153-171771154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575399115	chr4:171771156-171771157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544094093	chr4:171771210-171771211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs80014058	chr4:171771211-171771212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564071787	chr4:171771290-171771291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs34262189	chr4:171771372-171771373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7439560	chr4:171771401-171771402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75845094	chr4:171771453-171771454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372706341	chr4:171771489-171771490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7671556	chr4:171771496-171771497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140411924	chr4:171771507-171771508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189318436	chr4:171771641-171771642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569430702	chr4:171771669-171771670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150370740	chr4:171771693-171771694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117829749	chr4:171771721-171771722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs28514450	chr4:171771761-171771762	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs145066189	chr4:171771792-171771793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552944686	chr4:171771841-171771842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566399209	chr4:171771865-171771866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535534312	chr4:171771871-171771872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62344266	chr4:171771884-171771885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575383362	chr4:171771953-171771954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544027023	chr4:171772055-171772056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557600205	chr4:171772090-171772091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182262325	chr4:171772095-171772096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	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
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171766200-171767000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:171770800-171771200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:171771000-171771400	Enhancers	HMEC	breast
4	chr4:171771000-171771800	Enhancers	GM12878-XiMat	blood
5	chr4:171771200-171774800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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