Variant report

Variant	nsv1010463
Chromosome Location	chr1:189488465-189612966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
2	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:
3	chr1:189608651..189610421-chr1:189613616..189615684,2	K562	blood:
4	chr1:189589226..189590045-chr1:189662088..189662866,2	MCF-7	breast:
5	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
6	chr1:189493316..189495330-chr8:119780090..119782266,2	MCF-7	breast:
7	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
8	chr1:189581455..189584315-chr1:189585168..189587493,2	K562	blood:
9	chr1:189534638..189536257-chr1:189546205..189548519,2	K562	blood:
10	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
11	chr1:189588020..189590795-chr1:189591484..189594244,3	MCF-7	breast:
12	chr1:189535776..189538108-chr1:189539099..189541402,2	K562	blood:
13	chr1:189511503..189514474-chr1:189516095..189518891,2	MCF-7	breast:

No data

Extended variants
information (count: 1729 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:1729 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550418753	chr1:189495223-189495224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145251887	chr1:189495310-189495311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181732604	chr1:189495342-189495343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549097901	chr1:189495343-189495344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36014369	chr1:189495399-189495400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186103203	chr1:189495417-189495418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76250632	chr1:189495442-189495443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149164539	chr1:189495446-189495447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs76812066	chr1:189495471-189495472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570277986	chr1:189495478-189495479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191052641	chr1:189495483-189495484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556378052	chr1:189495492-189495493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78338579	chr1:189495542-189495543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572621999	chr1:189495616-189495617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555067853	chr1:189495682-189495683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142367381	chr1:189495736-189495737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34613735	chr1:189495737-189495738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568313142	chr1:189495738-189495739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75160241	chr1:189495752-189495753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145500559	chr1:189495778-189495779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539804947	chr1:189495797-189495798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34474340	chr1:189495799-189495800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561351536	chr1:189495812-189495813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573993409	chr1:189495819-189495820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182200980	chr1:189495840-189495841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544962441	chr1:189495841-189495842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs578180846	chr1:189495875-189495876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369845135	chr1:189495901-189495902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544930549	chr1:189495952-189495953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77388035	chr1:189495968-189495969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543034690	chr1:189495984-189495985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115025028	chr1:189496025-189496026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528578554	chr1:189496030-189496031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551432487	chr1:189496053-189496054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564547905	chr1:189496086-189496087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79213718	chr1:189496247-189496248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533109862	chr1:189496296-189496297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185190600	chr1:189496307-189496308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs60007825	chr1:189496344-189496345	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12755032	chr1:189496546-189496547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12727461	chr1:189496548-189496549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190054467	chr1:189496563-189496564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555377413	chr1:189496572-189496573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs12750208	chr1:189496598-189496599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375729728	chr1:189496602-189496603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141146866	chr1:189496622-189496623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534733240	chr1:189496643-189496644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370247454	chr1:189496651-189496652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7537185	chr1:189496667-189496668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75648400	chr1:189496674-189496675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189495200-189495600	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:189495600-189499400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:189497000-189497200	Enhancers	Ovary	ovary
4	chr1:189498200-189499400	Weak transcription	Ovary	ovary
5	chr1:189499400-189499600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:189499400-189500000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:189499400-189500000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr1:189499400-189500000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:189499400-189500000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:189499400-189500000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:189499400-189500000	Enhancers	Ovary	ovary
12	chr1:189499400-189500200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:189499400-189500600	Enhancers	Fetal Lung	lung
14	chr1:189499600-189500000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr1:189499600-189500000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:189499600-189500000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr1:189499800-189501000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:189500000-189501200	Weak transcription	Ovary	ovary
19	chr1:189500600-189501400	Weak transcription	Fetal Lung	lung
20	chr1:189501000-189501800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:189501200-189501600	Enhancers	Ovary	ovary
22	chr1:189501400-189501800	Enhancers	Fetal Lung	lung
23	chr1:189501800-189502800	Weak transcription	Fetal Lung	lung
24	chr1:189503000-189503200	Enhancers	Fetal Lung	lung
25	chr1:189519000-189519600	Enhancers	Fetal Brain Male	brain
26	chr1:189523800-189524400	Enhancers	Fetal Lung	lung
27	chr1:189525400-189525600	Enhancers	Esophagus	oesophagus
28	chr1:189525400-189525600	Enhancers	Pancreas	Pancrea
29	chr1:189552200-189553200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:189555200-189555400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:189565200-189566800	Enhancers	HUVEC	blood vessel
32	chr1:189566400-189566800	Active TSS	A549	lung
33	chr1:189574200-189575400	Enhancers	A549	lung
34	chr1:189574200-189576600	Enhancers	Hela-S3	cervix
35	chr1:189574200-189577200	Enhancers	HMEC	breast
36	chr1:189574400-189574600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr1:189574800-189575800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr1:189575200-189575600	Enhancers	Fetal Brain Male	brain
39	chr1:189575400-189576200	Flanking Active TSS	A549	lung
40	chr1:189575800-189576800	Enhancers	NH-A	brain
41	chr1:189575800-189578800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr1:189576000-189576800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:189576200-189576400	Active TSS	A549	lung
44	chr1:189576400-189576600	Flanking Active TSS	A549	lung
45	chr1:189576600-189576800	Active TSS	A549	lung
46	chr1:189576600-189577000	Enhancers	Osteobl	bone
47	chr1:189576800-189577400	Flanking Active TSS	A549	lung
48	chr1:189577400-189578200	Enhancers	A549	lung
49	chr1:189578000-189578600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:189578000-189578800	Enhancers	HUES48 Cell Line	embryonic stem cell

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