Variant report

Variant	nsv872790
Chromosome Location	chr1:190923837-191005111
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:190978633..190980595-chr1:190983607..190985514,2	K562	blood:
2	chr1:190987156..190989063-chr1:190989667..190991830,2	K562	blood:
3	chr1:190949975..190952260-chr1:190953522..190955676,2	K562	blood:
4	chr1:190926824..190927388-chr1:191800448..191800967,2	MCF-7	breast:
5	chr1:190987156..190989063-chr1:190989667..190991830,2	K562	blood:
6	chr1:190978633..190980595-chr1:190983607..190985514,2	K562	blood:
7	chr1:190907314..190910311-chr1:190988688..190990783,2	K562	blood:
8	chr1:190949975..190952260-chr1:190953522..190955676,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM5C-8	chr1:191000528-191000708	l_159_chr1:191000527-191001930_76bGuttman_hLF
2	lnc-FAM5C-8	chr1:191001792-191001930	l_159_chr1:191000527-191001930_76bGuttman_hLF
3	lnc-FAM5C-7	chr1:190946299-190946427	NONHSAT008513
4	lnc-FAM5C-7	chr1:190945550-190945655	NONHSAT008513

No data

Extended variants
information (count: 584 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:584 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558018218	chr1:190930201-190930202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572016540	chr1:190930207-190930208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12082476	chr1:190930264-190930265	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550552089	chr1:190930282-190930283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187695227	chr1:190930295-190930296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536323340	chr1:190930316-190930317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536122092	chr1:190930328-190930329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552818954	chr1:190930369-190930370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572986943	chr1:190930381-190930382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35345434	chr1:190930448-190930449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534883525	chr1:190930456-190930457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79374681	chr1:190930466-190930467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575157379	chr1:190930551-190930552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559700413	chr1:190930567-190930568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199629975	chr1:190930577-190930578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191420007	chr1:190930616-190930617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549285509	chr1:190930650-190930651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142453909	chr1:190930660-190930661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573726524	chr1:190930697-190930698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555790571	chr1:190930738-190930739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182818798	chr1:190930750-190930751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs546903323	chr1:190930773-190930774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559631363	chr1:190930786-190930787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528681162	chr1:190930803-190930804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187019779	chr1:190930829-190930830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567826605	chr1:190930858-190930859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531193365	chr1:190930867-190930868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551316235	chr1:190930873-190930874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192179162	chr1:190930901-190930902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575755072	chr1:190930995-190930996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185070482	chr1:190930998-190930999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546673987	chr1:190931062-190931063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550106172	chr1:190931108-190931109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571756101	chr1:190931129-190931130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142828282	chr1:190931199-190931200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538738895	chr1:190931214-190931215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558297622	chr1:190931254-190931255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190704569	chr1:190931285-190931286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs151216252	chr1:190931375-190931376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544470194	chr1:190931423-190931424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554478228	chr1:190931520-190931521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193137172	chr1:190931551-190931552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542701801	chr1:190931589-190931590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374633558	chr1:190931601-190931602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568511526	chr1:190931621-190931622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554238059	chr1:190931624-190931625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573215073	chr1:190931648-190931649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146973972	chr1:190931686-190931687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572494407	chr1:190931702-190931703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185591236	chr1:190931719-190931720	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:190930200-190931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:190931200-190935400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:190935400-190935800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:190935400-190935800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:190935400-190935800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:190949000-190951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:190956000-190956200	Enhancers	Pancreas	Pancrea
8	chr1:190990400-190993200	Enhancers	HUVEC	blood vessel
9	chr1:190991600-190992800	Enhancers	NH-A	brain
10	chr1:190991800-190992200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:190992200-190995200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:190995200-190995600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:190995200-190995600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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