Variant report

Variant	nsv968787
Chromosome Location	chr4:165770780-165787709
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	chr4:165772859..165774381-chr4:165791100..165793270,2	MCF-7	breast:
2	chr4:165786297..165787799-chr4:165799445..165800981,2	MCF-7	breast:

Extended variants
information (count: 418 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:418 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10028712	chr4:165777000-165777001	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs557015284	chr4:165777019-165777020	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs72998131	chr4:165777020-165777021	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs553073124	chr4:165777022-165777023	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs149626562	chr4:165777026-165777027	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs144332745	chr4:165777031-165777032	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs551146424	chr4:165777032-165777033	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs74342048	chr4:165777036-165777037	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs556980314	chr4:165777045-165777046	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs569386156	chr4:165777109-165777110	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs575492830	chr4:165777133-165777134	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs146793970	chr4:165777168-165777169	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs564491754	chr4:165777171-165777172	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs6536871	chr4:165777179-165777180	ZNF genes & repeats Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs187265603	chr4:165777216-165777217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561804803	chr4:165777219-165777220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529448175	chr4:165777247-165777248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75184310	chr4:165777250-165777251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113729476	chr4:165777306-165777307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563078338	chr4:165777321-165777322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368914691	chr4:165777324-165777325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs370394738	chr4:165777370-165777371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs527985313	chr4:165777375-165777376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533659720	chr4:165777444-165777445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551911620	chr4:165777445-165777446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144195130	chr4:165777460-165777461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528061567	chr4:165777504-165777505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4588417	chr4:165777512-165777513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs71618422	chr4:165777530-165777531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568117554	chr4:165777533-165777534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374402953	chr4:165777550-165777551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535338012	chr4:165777569-165777570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529050933	chr4:165777609-165777610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6850057	chr4:165777616-165777617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539698264	chr4:165777617-165777618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191762730	chr4:165777620-165777621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs151071214	chr4:165777657-165777658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183930245	chr4:165777686-165777687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140989692	chr4:165777689-165777690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs150361454	chr4:165777774-165777775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144974740	chr4:165777784-165777785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114289165	chr4:165777873-165777874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533334549	chr4:165777877-165777878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565600729	chr4:165777929-165777930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545696075	chr4:165777934-165777935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560729599	chr4:165777978-165777979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs72695868	chr4:165777992-165777993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs139837551	chr4:165778035-165778036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374013228	chr4:165778072-165778073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568204645	chr4:165778123-165778124	Weak transcription	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
Breast cancer	17603634	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
primary effusion lymphomas	17116491	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
Breast cancer	17393978	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
Congenital diaphragmatic hernia	21085971	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
Glioblastoma multiforme	22286061	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:165777000-165777200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:165777000-165777200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:165777200-165780800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:165777600-165778000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr4:165782200-165787000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:165786000-165786200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:165786200-165787000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:165786400-165786600	Enhancers	H9 Cell Line	embryonic stem cell
9	chr4:165786400-165786600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:165786600-165787800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:165786600-165787800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:165786600-165788400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:165786600-165789400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:165786600-165796000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr4:165786800-165787800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:165787000-165787800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:165787000-165788800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:165787000-165789000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:165787000-165789000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:165787200-165789400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr4:165787400-165789000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:165787600-165789000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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