Variant report

Variant	nsv822820
Chromosome Location	chr4:166343402-166351961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166347673..166350626-chr4:166351468..166354252,2	MCF-7	breast:
2	chr4:166301322..166303532-chr4:166346590..166348237,2	MCF-7	breast:
3	chr4:166347673..166350626-chr4:166351468..166354252,2	MCF-7	breast:
4	chr4:166341842..166344662-chr4:166361837..166363651,2	K562	blood:

Extended variants
information (count: 420 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:420 , 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	rs10557049	chr4:166343441-166343442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3943704	chr4:166343462-166343463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs147042394	chr4:166343496-166343497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs78452440	chr4:166343505-166343506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140430745	chr4:166343506-166343507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72478731	chr4:166343507-166343508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10646151	chr4:166343510-166343511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184793196	chr4:166343523-166343524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6832392	chr4:166343539-166343540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188737038	chr4:166343574-166343575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181535156	chr4:166343586-166343587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13133060	chr4:166343601-166343602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551178335	chr4:166343658-166343659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6832627	chr4:166343659-166343660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527395458	chr4:166343711-166343712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147873097	chr4:166343747-166343748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566945774	chr4:166343801-166343802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537729019	chr4:166343818-166343819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189240746	chr4:166343822-166343823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6833220	chr4:166343832-166343833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs538870974	chr4:166343858-166343859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9762244	chr4:166343867-166343868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs143717311	chr4:166343895-166343896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572529014	chr4:166343900-166343901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9759580	chr4:166343904-166343905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs28566950	chr4:166343925-166343926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs28716370	chr4:166343940-166343941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28665688	chr4:166343943-166343944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28622078	chr4:166343964-166343965	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs28641008	chr4:166343971-166343972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28444155	chr4:166343985-166343986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs9759768	chr4:166343989-166343990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565610755	chr4:166343998-166343999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28650360	chr4:166344039-166344040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61600897	chr4:166344053-166344054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541574645	chr4:166344085-166344086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559537185	chr4:166344086-166344087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59214191	chr4:166344094-166344095	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs548699875	chr4:166344102-166344103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77549778	chr4:166344123-166344124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367697659	chr4:166344129-166344130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs58058891	chr4:166344149-166344150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59831445	chr4:166344153-166344154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs117088084	chr4:166344157-166344158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549807156	chr4:166344162-166344163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190816392	chr4:166344168-166344169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61229216	chr4:166344210-166344211	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183068368	chr4:166344250-166344251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565902133	chr4:166344283-166344284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs28479431	chr4:166344336-166344337	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Colorectal cancer	16774939	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Myelofibrosis	22110671	CNVD
intellectual deficit	22127048	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166319600-166361800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:166326800-166364400	Weak transcription	Brain Germinal Matrix	brain
3	chr4:166334800-166348000	Weak transcription	Pancreas	Pancrea
4	chr4:166337400-166348200	Weak transcription	Aorta	Aorta
5	chr4:166337600-166346600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:166339600-166344200	Weak transcription	Brain Angular Gyrus	brain
7	chr4:166340000-166358800	Weak transcription	Fetal Brain Female	brain
8	chr4:166341000-166346200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:166342800-166347600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:166342800-166360000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:166342800-166364000	Weak transcription	HepG2	liver
12	chr4:166343000-166344200	Weak transcription	Brain Substantia Nigra	brain
13	chr4:166343000-166358200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr4:166343200-166347000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:166344200-166344400	Enhancers	Brain Angular Gyrus	brain
16	chr4:166344200-166344400	Enhancers	Brain Substantia Nigra	brain
17	chr4:166346600-166350400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:166347200-166347600	Enhancers	Brain Anterior Caudate	brain
19	chr4:166347400-166360800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:166347600-166348000	Weak transcription	Brain Anterior Caudate	brain
21	chr4:166347600-166351000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
22	chr4:166348000-166348400	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr4:166348000-166348400	ZNF genes & repeats	Pancreas	Pancrea
24	chr4:166348200-166348400	ZNF genes & repeats	Aorta	Aorta
25	chr4:166348400-166348600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:166348400-166349800	Weak transcription	Brain Anterior Caudate	brain
27	chr4:166348400-166352000	Weak transcription	Pancreas	Pancrea
28	chr4:166348400-166361800	Weak transcription	Aorta	Aorta
29	chr4:166349800-166350400	ZNF genes & repeats	Brain Anterior Caudate	brain
30	chr4:166350400-166352200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:166350400-166359400	Weak transcription	Brain Anterior Caudate	brain
32	chr4:166351000-166359400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr4:166351600-166355000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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