Variant report

Variant	nsv1009875
Chromosome Location	chr1:191521486-191722223
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:49)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
2	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
3	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
4	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
5	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
6	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
7	chr1:191701608..191705437-chr1:191706302..191708932,3	K562	blood:
8	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
9	chr1:191533124..191535603-chr12:13731082..13733492,2	MCF-7	breast:
10	chr1:191530245..191535067-chr1:191535376..191537861,5	K562	blood:
11	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
12	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:
13	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
14	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
15	chr1:191708525..191710416-chr1:191713003..191715158,2	K562	blood:
16	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
17	chr1:191576107..191578198-chr1:191578864..191580845,2	K562	blood:
18	chr1:191658649..191660238-chr1:191662141..191664711,2	K562	blood:
19	chr1:191701608..191705437-chr1:191706302..191708932,3	K562	blood:
20	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
21	chr1:191580900..191582708-chr1:191592956..191594970,2	K562	blood:
22	chr1:191711996..191714385-chr1:191821887..191824152,2	K562	blood:
23	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
24	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
25	chr1:191605237..191607003-chr1:191610030..191611864,2	K562	blood:
26	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
27	chr1:191719906..191721818-chr1:191723940..191725758,2	K562	blood:
28	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
29	chr1:191616602..191619321-chr1:191633804..191636058,2	K562	blood:
30	chr1:191670842..191673088-chr1:191683074..191685461,2	MCF-7	breast:
31	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
32	chr1:191611871..191613494-chr1:191619037..191620798,2	K562	blood:
33	chr1:191704245..191706560-chr1:191706732..191709677,2	K562	blood:
34	chr1:191592940..191595945-chr1:191597443..191599181,3	K562	blood:
35	chr1:191621018..191625151-chr1:191627413..191631107,4	K562	blood:
36	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
37	chr1:191618527..191620299-chr1:191625178..191627507,2	K562	blood:
38	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
39	chr1:191531038..191532932-chr1:191533224..191534815,2	MCF-7	breast:
40	chr1:191570809..191573579-chr1:191576592..191579208,2	MCF-7	breast:
41	chr1:191656150..191658187-chr1:191658870..191661346,2	K562	blood:
42	chr1:191576250..191579114-chr1:191581438..191583705,3	MCF-7	breast:
43	chr1:191704245..191706560-chr1:191706732..191709677,2	K562	blood:
44	chr1:191590246..191592649-chr1:191593874..191595968,2	MCF-7	breast:
45	chr1:191532249..191535067-chr1:191535515..191537308,2	K562	blood:
46	chr1:191716548..191718884-chr1:191723444..191727562,3	K562	blood:
47	chr1:191720033..191721818-chr1:191724258..191727232,2	K562	blood:
48	chr1:191667560..191670063-chr1:191670444..191673438,2	MCF-7	breast:
49	chr1:191666098..191668261-chr1:191671112..191673140,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-9	chr1:191540498-191540691	NONHSAT008519
2	lnc-FAM5C-3	chr1:191685359-191685577	XLOC_001131
3	lnc-RGS18-9	chr1:191601401-191601706	NONHSAT008519
4	lnc-FAM5C-3	chr1:191686588-191686611	XLOC_001131
5	lnc-RGS18-9	chr1:191586857-191586992	NONHSAT008519
6	lnc-RGS18-9	chr1:191584886-191585028	NONHSAT008519

No data

Variant related genes	Relation type
G6PC3	miRNA target sites
ARSB	miRNA target sites

Extended variants
information (count: 3882 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:3882 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560608024	chr1:191527220-191527221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368216540	chr1:191527224-191527225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535979989	chr1:191527247-191527248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533811519	chr1:191527256-191527257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs116882676	chr1:191527263-191527264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187396645	chr1:191527284-191527285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192540924	chr1:191527286-191527287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116170013	chr1:191527289-191527290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558417200	chr1:191527314-191527315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs138036279	chr1:191527322-191527323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115148282	chr1:191527336-191527337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554485973	chr1:191527342-191527343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574612079	chr1:191527348-191527349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142606830	chr1:191527359-191527360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150535785	chr1:191527383-191527384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs528485548	chr1:191527472-191527473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545429327	chr1:191527504-191527505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185486747	chr1:191527523-191527524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531253825	chr1:191527533-191527534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139534107	chr1:191527543-191527544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371631119	chr1:191527649-191527650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115872489	chr1:191527662-191527663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149235372	chr1:191527706-191527707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577113525	chr1:191527721-191527722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112724566	chr1:191527795-191527796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4845285	chr1:191527815-191527816	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551755854	chr1:191527836-191527837	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144452239	chr1:191527896-191527897	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187769904	chr1:191527898-191527899	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554879358	chr1:191527923-191527924	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531416361	chr1:191528010-191528011	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574545386	chr1:191528014-191528015	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559196041	chr1:191528066-191528067	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529765790	chr1:191528082-191528083	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534035391	chr1:191528151-191528152	Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192687803	chr1:191528211-191528212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549679908	chr1:191528237-191528238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575764787	chr1:191528245-191528246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545392495	chr1:191528259-191528260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114210829	chr1:191528274-191528275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372591835	chr1:191528302-191528303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371491778	chr1:191528319-191528320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113936470	chr1:191528327-191528328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184909419	chr1:191528354-191528355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140136856	chr1:191528382-191528383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561671028	chr1:191528419-191528420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530221508	chr1:191528430-191528431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562937721	chr1:191528457-191528458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79623514	chr1:191528468-191528469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531158254	chr1:191528479-191528480	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
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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:226 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191527200-191527800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:191527600-191527800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:191527600-191528000	Enhancers	K562	blood
4	chr1:191527800-191528200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:191527800-191529600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:191528200-191528400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:191529600-191530600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:191529800-191530800	Enhancers	Fetal Intestine Small	intestine
9	chr1:191530000-191530800	Enhancers	Fetal Intestine Large	intestine
10	chr1:191530400-191531600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:191530600-191533400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:191533400-191533600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:191533600-191534000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:191534000-191534800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:191541800-191542600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:191542600-191545000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:191544200-191544800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:191544200-191545000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:191544200-191545000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr1:191544200-191545000	Enhancers	NH-A	brain
21	chr1:191544400-191545200	Enhancers	Ovary	ovary
22	chr1:191544400-191545400	Enhancers	K562	blood
23	chr1:191544800-191545600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr1:191545000-191545400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:191545000-191545400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:191545000-191545400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:191545000-191545400	Enhancers	Fetal Kidney	kidney
28	chr1:191545000-191545600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:191545400-191546600	Weak transcription	K562	blood
30	chr1:191545600-191546400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:191546400-191550400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:191546600-191546800	Enhancers	K562	blood
33	chr1:191547600-191547800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:191547800-191548000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:191548000-191548400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr1:191548000-191548400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:191548400-191548600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:191550400-191550800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:191550800-191551200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:191551200-191552400	Enhancers	K562	blood
41	chr1:191551200-191552600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:191552400-191552800	Weak transcription	K562	blood
43	chr1:191552600-191556000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:191552800-191553000	Enhancers	K562	blood
45	chr1:191553000-191554200	Weak transcription	K562	blood
46	chr1:191554200-191555200	Enhancers	K562	blood
47	chr1:191558000-191558200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:191558200-191577600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:191558800-191561600	Enhancers	Dnd41	blood
50	chr1:191560800-191561200	Enhancers	Ovary	ovary

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