Variant report

Variant	nsv548591
Chromosome Location	chr1:191623693-191642616
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
2	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
3	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
4	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:

Extended variants
information (count: 453 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11804493	chr1:191630028-191630029	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540947441	chr1:191630038-191630039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187282858	chr1:191630058-191630059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71639139	chr1:191630102-191630103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545490306	chr1:191630122-191630123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562245165	chr1:191630138-191630139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191844531	chr1:191630198-191630199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368397233	chr1:191630245-191630246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150672811	chr1:191630257-191630258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370307430	chr1:191630258-191630259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1336866	chr1:191630277-191630278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527569711	chr1:191630289-191630290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138848401	chr1:191630342-191630343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77731770	chr1:191630345-191630346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs533210796	chr1:191630373-191630374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs371301202	chr1:191630396-191630397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs552658321	chr1:191630426-191630427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569385988	chr1:191630443-191630444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10590530	chr1:191630463-191630464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538206713	chr1:191630482-191630483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554642721	chr1:191630516-191630517	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118037702	chr1:191630536-191630537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs16833655	chr1:191630540-191630541	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182232119	chr1:191630541-191630542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114506831	chr1:191630579-191630580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574810880	chr1:191630582-191630583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376795377	chr1:191630585-191630586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186466059	chr1:191630618-191630619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs55897399	chr1:191630637-191630638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7517393	chr1:191630653-191630654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs146340805	chr1:191630660-191630661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76827713	chr1:191630685-191630686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548483035	chr1:191630688-191630689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541937353	chr1:191630763-191630764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12025778	chr1:191630788-191630789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs557530568	chr1:191630799-191630800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115054431	chr1:191630864-191630865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540964714	chr1:191630902-191630903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564377893	chr1:191630904-191630905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533122717	chr1:191630923-191630924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550018568	chr1:191630949-191630950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10920987	chr1:191631003-191631004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190287814	chr1:191631042-191631043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548702468	chr1:191631107-191631108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7528072	chr1:191631131-191631132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs66478619	chr1:191631139-191631140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71742038	chr1:191631141-191631142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs74130249	chr1:191631152-191631153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs188507857	chr1:191631164-191631165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144228092	chr1:191631183-191631184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Urothelial carcinoma	21177765	CNVD
Lung cancer	17086460	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191630000-191630600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:191630200-191630400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:191630200-191630600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:191630400-191631200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:191631200-191631400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:191631400-191632200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:191632200-191633200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:191633200-191634400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:191634400-191635800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:191635800-191637400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:191637800-191638000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:191638200-191639400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:191638200-191641000	Enhancers	NH-A	brain
14	chr1:191639200-191639400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:191639400-191640600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:191639600-191640600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:191640600-191641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:191640600-191641000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr1:191640600-191641000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:191641000-191641200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:191641200-191643600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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