Variant report

Variant	nsv1024919
Chromosome Location	chr4:187270384-187299699
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	chr11:67069270..67069773-chr4:187272896..187273396,2	NB4	blood:
2	chr10:56621759..56622362-chr4:187295967..187296841,2	MCF-7	breast:

Extended variants
information (count: 564 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:564 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574751025	chr4:187270398-187270399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552676975	chr4:187270486-187270487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112813707	chr4:187270521-187270522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115783345	chr4:187270612-187270613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs551197010	chr4:187270641-187270642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564725609	chr4:187270650-187270651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576008037	chr4:187270697-187270698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144091217	chr4:187270752-187270753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs9996787	chr4:187270778-187270779	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs148240042	chr4:187270794-187270795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543738013	chr4:187270818-187270819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74607373	chr4:187270819-187270820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562450532	chr4:187270864-187270865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539334381	chr4:187270875-187270876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111679135	chr4:187270881-187270882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575913678	chr4:187270904-187270905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76061425	chr4:187270925-187270926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4456995	chr4:187270966-187270967	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs574846432	chr4:187270971-187270972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543287772	chr4:187270972-187270973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141378548	chr4:187270979-187270980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561519392	chr4:187270986-187270987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544896352	chr4:187271013-187271014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150801620	chr4:187271041-187271042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530626462	chr4:187271045-187271046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7672650	chr4:187271047-187271048	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs535785111	chr4:187271052-187271053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35646842	chr4:187271075-187271076	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs79234826	chr4:187271107-187271108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527355459	chr4:187271149-187271150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190579689	chr4:187271169-187271170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566472474	chr4:187271177-187271178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575660333	chr4:187271178-187271179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs180860474	chr4:187271181-187271182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551868255	chr4:187271183-187271184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528204244	chr4:187271193-187271194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373138890	chr4:187271198-187271199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563922158	chr4:187271278-187271279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531428724	chr4:187271279-187271280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549800965	chr4:187271283-187271284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534291146	chr4:187271320-187271321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568306826	chr4:187271326-187271327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553921638	chr4:187271384-187271385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535390702	chr4:187271396-187271397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545749840	chr4:187271401-187271402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558442491	chr4:187271406-187271407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs145029769	chr4:187271415-187271416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544115572	chr4:187271463-187271464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62350305	chr4:187271477-187271478	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs185791106	chr4:187271485-187271486	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	16272173	CNVD
Breast cancer	17133270	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
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187269400-187272400	Enhancers	Pancreas	Pancrea
2	chr4:187272400-187278800	Weak transcription	Pancreas	Pancrea
3	chr4:187273800-187274000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr4:187273800-187274000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:187278800-187279000	Enhancers	Pancreas	Pancrea
6	chr4:187285000-187285600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:187285000-187286200	ZNF genes & repeats	Adipose Nuclei	Adipose
8	chr4:187285000-187287800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:187285200-187286200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
10	chr4:187285200-187286200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr4:187285800-187286200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:187286200-187289200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:187289000-187289600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:187289000-187289600	Enhancers	HMEC	breast
15	chr4:187289200-187289800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:187289200-187289800	Enhancers	NHEK	skin
17	chr4:187289200-187290200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:187289200-187290200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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