Variant report

Variant	nsv518715
Chromosome Location	chr1:190009701-190042706
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:190017220..190019071-chr1:190031921..190033627,2	MCF-7	breast:
2	chr1:190011663..190013449-chr1:190017469..190019523,2	K562	blood:
3	chr1:190017220..190019071-chr1:190031921..190033627,2	MCF-7	breast:
4	chr1:190011663..190013449-chr1:190017469..190019523,2	K562	blood:

Extended variants
information (count: 539 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4339868	chr1:190009701-190009702	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10800828	chr1:190009727-190009728	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563660264	chr1:190009747-190009748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4442368	chr1:190009753-190009754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs182074836	chr1:190009806-190009807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142409502	chr1:190009843-190009844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1418799	chr1:190009863-190009864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573441037	chr1:190009877-190009878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534641157	chr1:190009937-190009938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563302599	chr1:190009938-190009939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528906049	chr1:190009990-190009991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185471604	chr1:190010008-190010009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372645221	chr1:190010023-190010024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151298135	chr1:190010024-190010025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17374523	chr1:190010028-190010029	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139435395	chr1:190010051-190010052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530937667	chr1:190010080-190010081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550680806	chr1:190010094-190010095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6427944	chr1:190010100-190010101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs150057283	chr1:190010199-190010200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552542177	chr1:190010213-190010214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566015008	chr1:190010217-190010218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17374565	chr1:190010245-190010246	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147736129	chr1:190010284-190010285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1554884	chr1:190010308-190010309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543515978	chr1:190010391-190010392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557036789	chr1:190010416-190010417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547928545	chr1:190010435-190010436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142353458	chr1:190010459-190010460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190773578	chr1:190010464-190010465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374264566	chr1:190010534-190010535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559785636	chr1:190010582-190010583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76026118	chr1:190010606-190010607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545172872	chr1:190010656-190010657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565105378	chr1:190010688-190010689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531023023	chr1:190010694-190010695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16831924	chr1:190010735-190010736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10800829	chr1:190010790-190010791	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs79083477	chr1:190010823-190010824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147905056	chr1:190010887-190010888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547015778	chr1:190010916-190010917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76296050	chr1:190010923-190010924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534944619	chr1:190010958-190010959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558106990	chr1:190010984-190010985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558144394	chr1:190011017-190011018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180812502	chr1:190011021-190011022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577437582	chr1:190011051-190011052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185260940	chr1:190011058-190011059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573720920	chr1:190011079-190011080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574205792	chr1:190011093-190011094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17899364	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	17086460	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190007200-190020600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:190016000-190016800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:190016000-190016800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:190018600-190018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:190018800-190021200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:190019600-190019800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:190019800-190021400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:190020400-190021800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:190020600-190021200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:190021000-190021400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:190021400-190021800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:190036200-190036600	Enhancers	Fetal Intestine Large	intestine
13	chr1:190036200-190037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:190036200-190037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:190036600-190036800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr1:190037400-190037600	Enhancers	Muscle Satellite Cultured Cells	--

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