Variant report

Variant	nsv967704
Chromosome Location	chr4:173405876-173407707
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	chr4:173404168..173405809-chr4:173407513..173409648,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142926884	chr4:173405890-173405891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576349126	chr4:173405939-173405940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151099921	chr4:173406061-173406062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575254883	chr4:173406070-173406071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192312028	chr4:173406082-173406083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11132946	chr4:173406164-173406165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs374135337	chr4:173406271-173406272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112411637	chr4:173406305-173406306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540841443	chr4:173406372-173406373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560729635	chr4:173406437-173406438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139982302	chr4:173406454-173406455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs337992	chr4:173406461-173406462	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556154181	chr4:173406521-173406522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184741410	chr4:173406542-173406543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375324678	chr4:173406543-173406544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9790340	chr4:173406553-173406554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs337991	chr4:173406556-173406557	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs193178934	chr4:173406561-173406562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541839603	chr4:173406587-173406588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537529116	chr4:173406588-173406589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552765039	chr4:173406608-173406609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557219103	chr4:173406679-173406680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577014875	chr4:173406786-173406787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566390106	chr4:173406793-173406794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535366735	chr4:173406815-173406816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144951150	chr4:173406910-173406911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114370093	chr4:173406961-173406962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78077011	chr4:173406988-173406989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557537965	chr4:173406991-173406992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs337990	chr4:173407072-173407073	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531333930	chr4:173407093-173407094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs547780392	chr4:173407099-173407100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529558075	chr4:173407100-173407101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543332924	chr4:173407148-173407149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563209087	chr4:173407152-173407153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531585815	chr4:173407161-173407162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551776523	chr4:173407247-173407248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs150511032	chr4:173407261-173407262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565200602	chr4:173407266-173407267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147767936	chr4:173407285-173407286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141144140	chr4:173407293-173407294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34198489	chr4:173407317-173407318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184668570	chr4:173407336-173407337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146950638	chr4:173407359-173407360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs35021833	chr4:173407362-173407363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560130791	chr4:173407378-173407379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569152435	chr4:173407398-173407399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567759789	chr4:173407404-173407405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144950329	chr4:173407420-173407421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557741592	chr4:173407470-173407471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:173403600-173410200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:173407200-173408200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr4:173407600-173408000	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:173407600-173408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:173407600-173408000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr4:173407600-173408200	Enhancers	HUES48 Cell Line	embryonic stem cell

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