Variant report

Variant	nsv461784
Chromosome Location	chr1:70231535-70306245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70283782..70286242-chr1:70286706..70289551,2	K562	blood:
2	chr1:70286905..70288667-chr1:70301183..70303525,2	K562	blood:
3	chr1:70283782..70286242-chr1:70286706..70289551,2	K562	blood:
4	chr1:70286905..70288667-chr1:70301183..70303525,2	K562	blood:

Extended variants
information (count: 1495 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1495 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1361493	chr1:70231535-70231536	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565402959	chr1:70231545-70231546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560417989	chr1:70231703-70231704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs34620947	chr1:70231721-70231722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181583431	chr1:70231731-70231732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1417442	chr1:70231863-70231864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs563161248	chr1:70231896-70231897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116245791	chr1:70231897-70231898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77798682	chr1:70231907-70231908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550912741	chr1:70231982-70231983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144492538	chr1:70232005-70232006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527328255	chr1:70232071-70232072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148458591	chr1:70232083-70232084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562535739	chr1:70232106-70232107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547452752	chr1:70232107-70232108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552519997	chr1:70232119-70232120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567276916	chr1:70232190-70232191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529869169	chr1:70232241-70232242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186848316	chr1:70232267-70232268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569919512	chr1:70232271-70232272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538931269	chr1:70232293-70232294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191970877	chr1:70232336-70232337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529981629	chr1:70232337-70232338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534215472	chr1:70232387-70232388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79141707	chr1:70232391-70232392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574064071	chr1:70232426-70232427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563288821	chr1:70232443-70232444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1417443	chr1:70232444-70232445	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141711881	chr1:70232460-70232461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576274359	chr1:70232473-70232474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530887168	chr1:70232474-70232475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545287376	chr1:70232505-70232506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565272062	chr1:70232516-70232517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527271062	chr1:70232517-70232518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35244966	chr1:70232533-70232534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540691585	chr1:70232550-70232551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560998434	chr1:70232551-70232552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150595203	chr1:70232577-70232578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183885238	chr1:70232578-70232579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1417444	chr1:70232583-70232584	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368980224	chr1:70232599-70232600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552481748	chr1:70232601-70232602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11209540	chr1:70232624-70232625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534164698	chr1:70232636-70232637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570553956	chr1:70232673-70232674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553887017	chr1:70232695-70232696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567702790	chr1:70232696-70232697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532689729	chr1:70232697-70232698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536341667	chr1:70232701-70232702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139954465	chr1:70232707-70232708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70214200-70233400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:70219800-70245200	Weak transcription	Fetal Brain Female	brain
3	chr1:70220400-70246800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:70223400-70234400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:70224600-70232200	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:70225400-70234600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:70231200-70232400	Enhancers	Fetal Lung	lung
8	chr1:70231400-70232200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:70231600-70232200	Enhancers	Adipose Nuclei	Adipose
10	chr1:70232200-70232400	Enhancers	Fetal Muscle Leg	muscle
11	chr1:70233400-70234600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:70234400-70234600	Enhancers	Brain Anterior Caudate	brain
13	chr1:70234600-70238200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:70240000-70242000	Weak transcription	Brain Anterior Caudate	brain
15	chr1:70241400-70243600	Enhancers	Stomach Mucosa	stomach
16	chr1:70241600-70243000	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:70242000-70244600	Enhancers	Brain Anterior Caudate	brain
18	chr1:70242400-70242600	Enhancers	Fetal Brain Male	brain
19	chr1:70242400-70243000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr1:70242400-70243800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:70242400-70244200	Enhancers	Brain Angular Gyrus	brain
22	chr1:70242600-70244400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr1:70242600-70244800	Weak transcription	Fetal Brain Male	brain
24	chr1:70242800-70243800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:70242800-70244000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:70242800-70244400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:70243400-70243600	Weak transcription	Brain Germinal Matrix	brain
28	chr1:70243400-70243800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:70243600-70243800	Enhancers	Brain Germinal Matrix	brain
30	chr1:70243800-70244400	Enhancers	Brain Hippocampus Middle	brain
31	chr1:70243800-70245200	Weak transcription	Brain Germinal Matrix	brain
32	chr1:70244200-70245400	Weak transcription	Brain Angular Gyrus	brain
33	chr1:70244400-70245400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:70244400-70245400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:70244400-70245600	Weak transcription	Brain Hippocampus Middle	brain
36	chr1:70244600-70245400	Weak transcription	Brain Anterior Caudate	brain
37	chr1:70244800-70245000	Enhancers	Fetal Brain Male	brain
38	chr1:70245000-70245400	Weak transcription	Fetal Brain Male	brain
39	chr1:70245200-70245400	Enhancers	Fetal Brain Female	brain
40	chr1:70245200-70246200	Enhancers	Brain Germinal Matrix	brain
41	chr1:70245400-70245600	Enhancers	Brain Angular Gyrus	brain
42	chr1:70245400-70245800	Enhancers	Brain Anterior Caudate	brain
43	chr1:70245400-70245800	Weak transcription	Fetal Brain Female	brain
44	chr1:70245400-70246000	Enhancers	Fetal Brain Male	brain
45	chr1:70245400-70246200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:70245400-70246400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:70245800-70246000	Enhancers	Fetal Brain Female	brain
48	chr1:70246000-70246200	Enhancers	Brain Hippocampus Middle	brain
49	chr1:70246000-70253400	Weak transcription	Fetal Brain Female	brain
50	chr1:70246800-70247000	Enhancers	Brain Inferior Temporal Lobe	brain

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