Variant report

Variant	nsv964735
Chromosome Location	chr4:187258843-187266525
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	chr4:187250299..187252105-chr4:187259927..187262894,2	K562	blood:

Variant related genes	Relation type
ENSG00000213332	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs576158244	chr4:187259936-187259937	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs181175246	chr4:187259983-187259984	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555382948	chr4:187260009-187260010	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533468117	chr4:187260015-187260016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs572106159	chr4:187260102-187260103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186401866	chr4:187260120-187260121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs77651365	chr4:187260137-187260138	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577032791	chr4:187260172-187260173	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146713422	chr4:187260175-187260176	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs545700370	chr4:187260179-187260180	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190174512	chr4:187260194-187260195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531466194	chr4:187260260-187260261	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs548294001	chr4:187260263-187260264	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs561710853	chr4:187260287-187260288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543268681	chr4:187260317-187260318	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs181684093	chr4:187260376-187260377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547337308	chr4:187260394-187260395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571081486	chr4:187260409-187260410	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112565196	chr4:187260449-187260450	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs528847241	chr4:187260450-187260451	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77491652	chr4:187260472-187260473	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74687530	chr4:187260474-187260475	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs78697763	chr4:187260475-187260476	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76545616	chr4:187260519-187260520	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569906184	chr4:187260550-187260551	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186423275	chr4:187260560-187260561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs140454355	chr4:187260588-187260589	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs377316887	chr4:187260618-187260619	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs11384917	chr4:187260667-187260668	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78120264	chr4:187260672-187260673	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191186867	chr4:187260673-187260674	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577090477	chr4:187260674-187260675	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs546061207	chr4:187260680-187260681	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556436297	chr4:187260775-187260776	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs551222912	chr4:187260797-187260798	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144138055	chr4:187260798-187260799	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs183392439	chr4:187260809-187260810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs79882885	chr4:187260837-187260838	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs555198293	chr4:187260854-187260855	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146433898	chr4:187260879-187260880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs140725765	chr4:187260887-187260888	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs200826504	chr4:187260889-187260890	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201394199	chr4:187260975-187260976	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs201489521	chr4:187260977-187260978	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs75365665	chr4:187260979-187260980	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs397880297	chr4:187260988-187260989	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs397880100	chr4:187260989-187260990	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs397881456	chr4:187260990-187260991	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs533497162	chr4:187260993-187260994	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs28737353	chr4:187261078-187261079	Inactive region	Chromatin interactive region	1 gene(s)	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187260600-187260800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
2	chr4:187263200-187264000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:187264000-187264200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187264000-187264400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:187265200-187265600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr4:187265800-187267000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
7	chr4:187266000-187266600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr4:187266200-187266400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr4:187266200-187266800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr4:187266200-187267000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
11	chr4:187266200-187267000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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