Variant report

Variant	nsv968022
Chromosome Location	chr4:172755106-172759928
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	chr4:172747937..172749943-chr4:172754889..172757555,2	K562	blood:

Extended variants
information (count: 176 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:176 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571242326	chr4:172755430-172755431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs513753	chr4:172755439-172755440	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567049608	chr4:172755449-172755450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs530127677	chr4:172755455-172755456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12374386	chr4:172755479-172755480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376705343	chr4:172755514-172755515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536494955	chr4:172755527-172755528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182737723	chr4:172755616-172755617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115624609	chr4:172755635-172755636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139951320	chr4:172755643-172755644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142175719	chr4:172755690-172755691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566963413	chr4:172755703-172755704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572414170	chr4:172755747-172755748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541281829	chr4:172755752-172755753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62328881	chr4:172755762-172755763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112091510	chr4:172755813-172755814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574682982	chr4:172755826-172755827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540361	chr4:172755849-172755850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562582153	chr4:172755857-172755858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531278416	chr4:172755863-172755864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13132366	chr4:172755879-172755880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13105500	chr4:172755885-172755886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561705960	chr4:172755904-172755905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs151189341	chr4:172755924-172755925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539448	chr4:172755932-172755933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187498023	chr4:172755939-172755940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191656927	chr4:172755961-172755962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538279292	chr4:172755962-172755963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554997490	chr4:172755994-172755995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569849490	chr4:172756004-172756005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113846753	chr4:172756012-172756013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559013506	chr4:172756032-172756033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184081197	chr4:172756059-172756060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575024267	chr4:172756077-172756078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200581812	chr4:172756095-172756096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189920334	chr4:172756143-172756144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78439119	chr4:172756144-172756145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540378801	chr4:172756177-172756178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560585680	chr4:172756212-172756213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192221911	chr4:172756241-172756242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373278363	chr4:172756258-172756259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79036183	chr4:172756267-172756268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543726981	chr4:172756272-172756273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563696190	chr4:172756330-172756331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572973254	chr4:172756358-172756359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141885101	chr4:172756375-172756376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184496737	chr4:172756416-172756417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545152303	chr4:172756473-172756474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544729595	chr4:172756478-172756479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117779170	chr4:172756479-172756480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Ovarian clear cell carcinoma	21343371	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172755400-172755800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr4:172755600-172755800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:172755800-172786000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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