Variant report

Variant	nsv468172
Chromosome Location	chr1:217318595-217324654
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	chr1:217311976..217314907-chr1:217319601..217322587,2	MCF-7	breast:
2	chr1:217306018..217307613-chr1:217317888..217320391,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ESRRG-1	chr1:217320942-217321908	ucscGeneNc_uc001hlp_2

Extended variants
information (count: 255 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12119765	chr1:217318595-217318596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547101357	chr1:217318606-217318607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558741551	chr1:217318662-217318663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567011888	chr1:217318684-217318685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532536046	chr1:217318711-217318712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs552293835	chr1:217318774-217318775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371690593	chr1:217318791-217318792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12077096	chr1:217318794-217318795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536963570	chr1:217318795-217318796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191255564	chr1:217318809-217318810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567106108	chr1:217318843-217318844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536081206	chr1:217318848-217318849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552645092	chr1:217318882-217318883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551657132	chr1:217318883-217318884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183452130	chr1:217318908-217318909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572853882	chr1:217318910-217318911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538588111	chr1:217318917-217318918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187682312	chr1:217318932-217318933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575865931	chr1:217318953-217318954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544898820	chr1:217318954-217318955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561603603	chr1:217318973-217318974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76579552	chr1:217319016-217319017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192237277	chr1:217319077-217319078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560589763	chr1:217319082-217319083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534876922	chr1:217319127-217319128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374878893	chr1:217319159-217319160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569678839	chr1:217319179-217319180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532510964	chr1:217319202-217319203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75899996	chr1:217319255-217319256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185150629	chr1:217319265-217319266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189673213	chr1:217319274-217319275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192830919	chr1:217319277-217319278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144309890	chr1:217319316-217319317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544398895	chr1:217319323-217319324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536550092	chr1:217319324-217319325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566870369	chr1:217319325-217319326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554756231	chr1:217319326-217319327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184704966	chr1:217319364-217319365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144676535	chr1:217319432-217319433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535993487	chr1:217319474-217319475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574724978	chr1:217319494-217319495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147457673	chr1:217319552-217319553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533910597	chr1:217319563-217319564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375013349	chr1:217319564-217319565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139837549	chr1:217319568-217319569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142704599	chr1:217319592-217319593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558647471	chr1:217319594-217319595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371693904	chr1:217319608-217319609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188467979	chr1:217319618-217319619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575115694	chr1:217319670-217319671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
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
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217318400-217325800	Weak transcription	Aorta	Aorta
2	chr1:217320200-217323200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:217321400-217322000	Weak transcription	Fetal Lung	lung
4	chr1:217322000-217322200	ZNF genes & repeats	Fetal Lung	lung
5	chr1:217322200-217323200	Weak transcription	Fetal Lung	lung
6	chr1:217323000-217323400	Enhancers	HMEC	breast
7	chr1:217323200-217323400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:217323200-217324000	Enhancers	Fetal Lung	lung
9	chr1:217323400-217327000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:217324000-217325200	Weak transcription	Fetal Lung	lung
11	chr1:217324600-217326000	Enhancers	Fetal Stomach	stomach

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