Variant report

Variant	nsv947210
Chromosome Location	chr1:191973845-191982944
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
2	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:
3	chr1:191975983..191977939-chr1:191978075..191981057,2	K562	blood:
4	chr1:191973664..191975283-chr1:191976831..191979604,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-1	chr1:191978969-191980390	ENSG00000228215.2
2	lnc-RGS18-1	chr1:191978891-191980390	XLOC_000507

No data

Extended variants
information (count: 239 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138758904	chr1:191974815-191974816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141898811	chr1:191974836-191974837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12088167	chr1:191974848-191974849	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs183828480	chr1:191974849-191974850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549983408	chr1:191974870-191974871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537386340	chr1:191974878-191974879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557590866	chr1:191974907-191974908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574286883	chr1:191974911-191974912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543214605	chr1:191974920-191974921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553119994	chr1:191975035-191975036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73057180	chr1:191975046-191975047	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141663217	chr1:191975052-191975053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543051682	chr1:191975073-191975074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564772607	chr1:191975093-191975094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538570150	chr1:191975134-191975135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189089379	chr1:191975136-191975137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12071120	chr1:191975137-191975138	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs561210724	chr1:191975163-191975164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529857087	chr1:191975166-191975167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546424805	chr1:191975212-191975213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113603285	chr1:191975224-191975225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572912388	chr1:191975280-191975281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533973667	chr1:191975286-191975287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs13375504	chr1:191975297-191975298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs139371235	chr1:191975303-191975304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116007490	chr1:191975333-191975334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551844327	chr1:191975340-191975341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551676342	chr1:191975343-191975344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537405134	chr1:191975347-191975348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs571847708	chr1:191975358-191975359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557390600	chr1:191975383-191975384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150531573	chr1:191975455-191975456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113016636	chr1:191975468-191975469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553629430	chr1:191975478-191975479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573470506	chr1:191975513-191975514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544814608	chr1:191975543-191975544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181552374	chr1:191975547-191975548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs149665564	chr1:191975574-191975575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555574454	chr1:191975632-191975633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544163003	chr1:191975633-191975634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114787196	chr1:191975642-191975643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529966206	chr1:191975720-191975721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs34762632	chr1:191975721-191975722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398053646	chr1:191975723-191975724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs540133697	chr1:191975725-191975726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs547062602	chr1:191975739-191975740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559957668	chr1:191975754-191975755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147362880	chr1:191975866-191975867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187596425	chr1:191975935-191975936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7520725	chr1:191975936-191975937	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:191974800-191975800	Enhancers	Dnd41	blood
2	chr1:191975200-191975600	Enhancers	K562	blood
3	chr1:191975800-191979200	Weak transcription	Dnd41	blood
4	chr1:191979200-191979800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:191979200-191980200	Enhancers	Dnd41	blood
6	chr1:191979600-191980200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:191979600-191980200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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