Variant report

Variant	nsv1005260
Chromosome Location	chr1:189998057-190055740
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	chr1:189677502..189678569-chr1:190053452..190054228,3	MCF-7	breast:
3	chr1:190011663..190013449-chr1:190017469..190019523,2	K562	blood:
4	chr1:189897967..189900169-chr1:190054489..190056512,2	MCF-7	breast:
5	chr1:190017220..190019071-chr1:190031921..190033627,2	MCF-7	breast:
6	chr1:190055531..190057704-chr1:190069392..190071855,2	MCF-7	breast:
7	chr1:190011663..190013449-chr1:190017469..190019523,2	K562	blood:

Extended variants
information (count: 686 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:686 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546458612	chr1:190006635-190006636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566633742	chr1:190006638-190006639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186245664	chr1:190006639-190006640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551815210	chr1:190006712-190006713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7522287	chr1:190006713-190006714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373811170	chr1:190006750-190006751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537446307	chr1:190006766-190006767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77631931	chr1:190006841-190006842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543741308	chr1:190006874-190006875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190261352	chr1:190006875-190006876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs370028129	chr1:190006912-190006913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10920383	chr1:190006935-190006936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576522196	chr1:190006957-190006958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545396163	chr1:190006966-190006967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577327563	chr1:190007064-190007065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16831910	chr1:190007078-190007079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562965359	chr1:190007101-190007102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576649416	chr1:190007119-190007120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542225861	chr1:190007220-190007221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562143290	chr1:190007229-190007230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558393252	chr1:190007269-190007270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181954362	chr1:190007325-190007326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546842321	chr1:190007452-190007453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34212000	chr1:190007459-190007460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10753912	chr1:190007478-190007479	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187500028	chr1:190007503-190007504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552000463	chr1:190007506-190007507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139112211	chr1:190007585-190007586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190681700	chr1:190007592-190007593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34580810	chr1:190007606-190007607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs548000607	chr1:190007620-190007621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568013563	chr1:190007625-190007626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533562941	chr1:190007638-190007639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554397339	chr1:190007649-190007650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530226320	chr1:190007654-190007655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141736678	chr1:190007665-190007666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10753913	chr1:190007671-190007672	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116785416	chr1:190007751-190007752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138513694	chr1:190007793-190007794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141040770	chr1:190007794-190007795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76232092	chr1:190007795-190007796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs386369105	chr1:190007797-190007798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386369106	chr1:190007802-190007803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59146563	chr1:190007803-190007804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576586227	chr1:190007861-190007862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542317423	chr1:190007910-190007911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182294247	chr1:190007940-190007941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150550830	chr1:190007959-190007960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72727252	chr1:190007986-190007987	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7517695	chr1:190007989-190007990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190006600-190007200	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr1:190006600-190007200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:190007200-190020600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:190016000-190016800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:190016000-190016800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:190018600-190018800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:190018800-190021200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:190019600-190019800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:190019800-190021400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:190020400-190021800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:190020600-190021200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:190021000-190021400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:190021400-190021800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:190036200-190036600	Enhancers	Fetal Intestine Large	intestine
15	chr1:190036200-190037000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:190036200-190037600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:190036600-190036800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr1:190037400-190037600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:190053600-190054200	Enhancers	Placenta	Placenta

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