Variant report

Variant	nsv947492
Chromosome Location	chr1:70414280-70420191
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	chr1:70414870..70417242-chr1:70419207..70421532,2	MCF-7	breast:
2	chr1:70414870..70417242-chr1:70419207..70421532,2	MCF-7	breast:

Extended variants
information (count: 190 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144442594	chr1:70414302-70414303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566296381	chr1:70414333-70414334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578068002	chr1:70414364-70414365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114874021	chr1:70414376-70414377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554268972	chr1:70414417-70414418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555467630	chr1:70414441-70414442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200300558	chr1:70414444-70414445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575429557	chr1:70414478-70414479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146605395	chr1:70414519-70414520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557965687	chr1:70414531-70414532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190083189	chr1:70414539-70414540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540155398	chr1:70414542-70414543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554039596	chr1:70414556-70414557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141098939	chr1:70414566-70414567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150259743	chr1:70414594-70414595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181250315	chr1:70414689-70414690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186279801	chr1:70414702-70414703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544335809	chr1:70414716-70414717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370638049	chr1:70414748-70414749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1244791	chr1:70414873-70414874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs533574286	chr1:70414922-70414923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546936901	chr1:70414943-70414944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567168288	chr1:70415036-70415037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542818743	chr1:70415089-70415090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548974503	chr1:70415107-70415108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550620476	chr1:70415114-70415115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561044762	chr1:70415146-70415147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12725425	chr1:70415161-70415162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34896756	chr1:70415204-70415205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111613312	chr1:70415221-70415222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199513595	chr1:70415248-70415249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200536628	chr1:70415249-70415250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10537023	chr1:70415250-70415251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201309252	chr1:70415251-70415252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs397861370	chr1:70415262-70415263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567328854	chr1:70415300-70415301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564933440	chr1:70415368-70415369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191512400	chr1:70415377-70415378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113673218	chr1:70415512-70415513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553750968	chr1:70415518-70415519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573903728	chr1:70415519-70415520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs184104936	chr1:70415564-70415565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555327498	chr1:70415586-70415587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575276959	chr1:70415587-70415588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544299031	chr1:70415596-70415597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs143020735	chr1:70415611-70415612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533328843	chr1:70415627-70415628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199593107	chr1:70415665-70415666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148933894	chr1:70415667-70415668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs74332141	chr1:70415673-70415674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70402000-70419800	Weak transcription	Fetal Brain Male	brain
2	chr1:70413600-70414600	Enhancers	Hela-S3	cervix
3	chr1:70418200-70419200	Enhancers	HSMMtube	muscle
4	chr1:70419800-70420800	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links