Variant report

Variant	esv1811209
Chromosome Location	chr1:189780142-189785833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:
2	chr1:189778329..189781313-chr1:189784587..189786793,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGS18-7	chr1:189783962-189784048	XLOC_000503

Variant related genes	Relation type
SOX2	miRNA target sites

Extended variants
information (count: 35 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527861744	chr1:189784002-189784003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs199916812	chr1:189784026-189784027	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs137904314	chr1:189784027-189784028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs3983264	chr1:189784040-189784041	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs397842132	chr1:189784041-189784042	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs566042132	chr1:189785408-189785409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573703990	chr1:189785409-189785410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571149793	chr1:189785419-189785420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188438511	chr1:189785420-189785421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551825964	chr1:189785421-189785422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181249760	chr1:189785425-189785426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541337102	chr1:189785444-189785445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114154600	chr1:189785467-189785468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2039776	chr1:189785489-189785490	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569615243	chr1:189785522-189785523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185810967	chr1:189785533-189785534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148885724	chr1:189785544-189785545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547562674	chr1:189785548-189785549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554552351	chr1:189785562-189785563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77032049	chr1:189785610-189785611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540795068	chr1:189785614-189785615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190354185	chr1:189785635-189785636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537780830	chr1:189785660-189785661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs578140294	chr1:189785665-189785666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561203772	chr1:189785677-189785678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2039777	chr1:189785708-189785709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529625138	chr1:189785730-189785731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112061475	chr1:189785744-189785745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs539873135	chr1:189785747-189785748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368434927	chr1:189785749-189785750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372367831	chr1:189785752-189785753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543310625	chr1:189785758-189785759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541524682	chr1:189785764-189785765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559511480	chr1:189785812-189785813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs3931586	chr1:189785833-189785834	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:87)

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
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 cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:189785400-189786000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:189785600-189786000	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:189785600-189786200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:189785600-189786200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:189785600-189786200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:189785800-189786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:189785800-189786200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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