Variant report

Variant	nsv596438
Chromosome Location	chr4:187358040-187369734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187363286..187364885-chr4:187368218..187369820,2	K562	blood:
2	chr4:187363286..187364885-chr4:187368218..187369820,2	K562	blood:
3	chr4:187363385..187366676-chr4:187368218..187370374,3	K562	blood:
4	chr4:187365176..187367106-chr4:187368874..187370492,2	K562	blood:
5	chr4:187367777..187369317-chr4:187372463..187374481,2	MCF-7	breast:
6	chr4:187365176..187367106-chr4:187368874..187370492,2	K562	blood:
7	chr4:187363385..187366676-chr4:187368218..187370374,3	K562	blood:

No data

Extended variants
information (count: 91 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528420776	chr4:187362640-187362641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73020714	chr4:187362659-187362660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114379361	chr4:187362681-187362682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74991689	chr4:187362856-187362857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs564381687	chr4:187362873-187362874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528403888	chr4:187362894-187362895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138674890	chr4:187362921-187362922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536040887	chr4:187362975-187362976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555733350	chr4:187362978-187362979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371129650	chr4:187363063-187363064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35560747	chr4:187363074-187363075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535043039	chr4:187363090-187363091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74821604	chr4:187363106-187363107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs79214965	chr4:187363112-187363113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536700363	chr4:187363116-187363117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556647463	chr4:187363168-187363169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535508753	chr4:187363213-187363214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187802293	chr4:187363219-187363220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62348864	chr4:187363230-187363231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559310760	chr4:187363260-187363261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562337230	chr4:187363274-187363275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573075245	chr4:187363294-187363295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs34424049	chr4:187363305-187363306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79786758	chr4:187363313-187363314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs192431331	chr4:187363325-187363326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533377172	chr4:187363337-187363338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183258043	chr4:187363392-187363393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577044139	chr4:187365811-187365812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572920457	chr4:187365819-187365820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2084729	chr4:187365864-187365865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145963581	chr4:187365896-187365897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11723706	chr4:187365904-187365905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575742189	chr4:187365925-187365926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190989796	chr4:187365929-187365930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34103989	chr4:187365934-187365935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561566087	chr4:187365941-187365942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11132396	chr4:187365960-187365961	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs115025144	chr4:187365985-187365986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560143434	chr4:187365989-187365990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532155542	chr4:187365991-187365992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373579734	chr4:187365993-187365994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182383715	chr4:187365998-187365999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186807678	chr4:187366087-187366088	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142631221	chr4:187366093-187366094	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs113219201	chr4:187366157-187366158	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs72714133	chr4:187366158-187366159	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs533814811	chr4:187366163-187366164	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs6853097	chr4:187366173-187366174	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs190139325	chr4:187366182-187366183	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs147610455	chr4:187366198-187366199	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
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
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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187362600-187363400	Enhancers	K562	blood
2	chr4:187365800-187366000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:187366000-187366800	Active TSS	Rectal Mucosa Donor 31	rectum
4	chr4:187366200-187366800	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr4:187366800-187367000	Enhancers	Rectal Mucosa Donor 31	rectum

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