Variant report

Variant	nsv871604
Chromosome Location	chr1:71353104-71361673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:71347287..71350966-chr1:71352408..71354626,3	K562	blood:
2	chr1:71357369..71360235-chr1:71360695..71362626,2	K562	blood:
3	chr1:71357369..71360235-chr1:71360695..71362626,2	K562	blood:
4	chr1:71350292..71353402-chr1:71355074..71357779,3	MCF-7	breast:
5	chr1:71350292..71353402-chr1:71355074..71357779,3	MCF-7	breast:

Extended variants
information (count: 298 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:298 , 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	rs1409978	chr1:71353104-71353105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34156127	chr1:71353131-71353132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6683228	chr1:71353135-71353136	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs34305832	chr1:71353146-71353147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113518364	chr1:71353194-71353195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575830103	chr1:71353301-71353302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs35557973	chr1:71353308-71353309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs35952145	chr1:71353342-71353343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115971358	chr1:71353344-71353345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533215106	chr1:71353348-71353349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35284022	chr1:71353359-71353360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs35946140	chr1:71353363-71353364	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1409977	chr1:71353367-71353368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149098150	chr1:71353377-71353378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569134812	chr1:71353414-71353415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531288223	chr1:71353442-71353443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551226922	chr1:71353479-71353480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571219589	chr1:71353524-71353525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533555216	chr1:71353545-71353546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553994423	chr1:71353597-71353598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386632273	chr1:71353658-71353659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35327754	chr1:71353659-71353660	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142155380	chr1:71353680-71353681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527444662	chr1:71353719-71353720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181043863	chr1:71353767-71353768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151231066	chr1:71353810-71353811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78722491	chr1:71353825-71353826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111948036	chr1:71353840-71353841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs17131477	chr1:71353846-71353847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540282216	chr1:71353895-71353896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531366350	chr1:71353924-71353925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60384879	chr1:71353939-71353940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560383812	chr1:71353996-71353997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140401666	chr1:71354000-71354001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549496377	chr1:71354143-71354144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571359120	chr1:71354163-71354164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58239962	chr1:71354186-71354187	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs141993368	chr1:71354197-71354198	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs59584343	chr1:71354199-71354200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185879841	chr1:71354210-71354211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553403422	chr1:71354305-71354306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566732996	chr1:71354371-71354372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190346619	chr1:71354372-71354373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534090799	chr1:71354375-71354376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375198212	chr1:71354386-71354387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72669134	chr1:71354437-71354438	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs527246261	chr1:71354458-71354459	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368233588	chr1:71354472-71354473	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs114197742	chr1:71354476-71354477	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs72669136	chr1:71354516-71354517	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
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
Cancer	20164920	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71346000-71357000	Weak transcription	Adipose Nuclei	Adipose
2	chr1:71348200-71354400	Weak transcription	Aorta	Aorta
3	chr1:71352200-71354400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:71352400-71355400	Weak transcription	K562	blood
5	chr1:71352600-71354000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:71353200-71354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:71353600-71353800	Enhancers	Fetal Heart	heart
8	chr1:71353600-71354000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:71353600-71354000	Enhancers	Fetal Brain Female	brain
10	chr1:71353600-71354800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:71353600-71354800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:71353600-71354800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:71353600-71355600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:71353800-71354400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr1:71353800-71354800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:71353800-71354800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:71354000-71354400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:71354000-71354800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:71354000-71355600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:71354000-71356600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:71354200-71354800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:71354400-71354600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:71354400-71354600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:71354400-71354600	Active TSS	Aorta	Aorta
25	chr1:71354400-71354800	Enhancers	H1 Cell Line	embryonic stem cell
26	chr1:71354400-71354800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr1:71354600-71354800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:71354600-71357600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:71354800-71355400	Weak transcription	Fetal Heart	heart
30	chr1:71355400-71356200	Enhancers	K562	blood
31	chr1:71355600-71356800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:71355600-71356800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:71355600-71358200	Enhancers	Fetal Heart	heart
34	chr1:71355600-71359200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:71356200-71356400	Flanking Active TSS	K562	blood
36	chr1:71356200-71356600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:71356400-71356600	Enhancers	K562	blood
38	chr1:71356400-71359400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr1:71356600-71356800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr1:71356600-71356800	Flanking Active TSS	K562	blood
41	chr1:71356600-71357000	Enhancers	Fetal Lung	lung
42	chr1:71356600-71357000	Enhancers	Gastric	stomach
43	chr1:71356600-71357000	Enhancers	Pancreas	Pancrea
44	chr1:71356600-71358000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:71356600-71358000	Enhancers	HSMMtube	muscle
46	chr1:71356600-71359000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:71356600-71359200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:71356600-71359200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:71356800-71357000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:71356800-71358200	Enhancers	K562	blood

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