Variant report

Variant	nsv546758
Chromosome Location	chr1:86438327-86483632
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86483581..86486265-chr1:86488492..86490836,2	K562	blood:
2	chr1:86452263..86454852-chr1:86455069..86456770,2	MCF-7	breast:
3	chr1:86452263..86454852-chr1:86455069..86456770,2	MCF-7	breast:
4	chr1:86478740..86480612-chr1:86522997..86525923,2	K562	blood:

Extended variants
information (count: 1771 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1771 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs608460	chr1:86438327-86438328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190988742	chr1:86438328-86438329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs562245890	chr1:86438344-86438345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182884333	chr1:86438352-86438353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548101219	chr1:86438356-86438357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564763100	chr1:86438373-86438374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533192686	chr1:86438381-86438382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550113550	chr1:86438394-86438395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570085421	chr1:86438403-86438404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112536761	chr1:86438453-86438454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs607979	chr1:86438473-86438474	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34675574	chr1:86438476-86438477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548808962	chr1:86438478-86438479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565527142	chr1:86438549-86438550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185817163	chr1:86438607-86438608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557632588	chr1:86438608-86438609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577842827	chr1:86438627-86438628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190974546	chr1:86438675-86438676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536666283	chr1:86438698-86438699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372587242	chr1:86438810-86438811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183406784	chr1:86438811-86438812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187729267	chr1:86438816-86438817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542741292	chr1:86438847-86438848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs693436	chr1:86438848-86438849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs143467430	chr1:86438873-86438874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs577867425	chr1:86438881-86438882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575326928	chr1:86438884-86438885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192289054	chr1:86438894-86438895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563629488	chr1:86438921-86438922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564639611	chr1:86438988-86438989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72954591	chr1:86439003-86439004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs183245539	chr1:86439015-86439016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188307121	chr1:86439063-86439064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550926941	chr1:86439130-86439131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532262956	chr1:86439135-86439136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549072974	chr1:86439143-86439144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147970546	chr1:86439199-86439200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72954593	chr1:86439216-86439217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545950976	chr1:86439224-86439225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113929768	chr1:86439361-86439362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11803202	chr1:86439371-86439372	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571487256	chr1:86439373-86439374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537330712	chr1:86439387-86439388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556731053	chr1:86439403-86439404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs593146	chr1:86439443-86439444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528729606	chr1:86439533-86439534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114205210	chr1:86439553-86439554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375200380	chr1:86439560-86439561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553108100	chr1:86439571-86439572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572939606	chr1:86439612-86439613	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:215 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86421400-86441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86422800-86442400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:86425800-86441200	Weak transcription	Fetal Lung	lung
4	chr1:86433200-86438400	Weak transcription	GM12878-XiMat	blood
5	chr1:86434200-86440800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:86437000-86438800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86437200-86438800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:86438200-86441000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:86438400-86439000	Enhancers	GM12878-XiMat	blood
10	chr1:86438800-86441400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:86438800-86441600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:86439000-86440800	Weak transcription	GM12878-XiMat	blood
13	chr1:86439600-86440000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:86440800-86442200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:86441000-86442600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:86441200-86442200	Strong transcription	Fetal Lung	lung
17	chr1:86441200-86442400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:86441200-86442800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:86441200-86442800	Enhancers	Adipose Nuclei	Adipose
20	chr1:86441400-86441800	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:86441400-86442000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:86441400-86442000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:86441400-86442200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:86441400-86442200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:86441400-86442400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:86441400-86442400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:86441400-86442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:86441400-86442600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:86441400-86442800	Enhancers	Fetal Muscle Trunk	muscle
30	chr1:86441600-86442000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr1:86441600-86442600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr1:86441600-86442800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:86441800-86442800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:86441800-86442800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:86441800-86442800	Enhancers	Fetal Muscle Leg	muscle
36	chr1:86442000-86442200	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:86442000-86442400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:86442000-86442600	Enhancers	Fetal Intestine Large	intestine
39	chr1:86442000-86442800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:86442000-86447400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:86442200-86442400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:86442200-86442400	Enhancers	Fetal Intestine Small	intestine
43	chr1:86442200-86442600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:86442200-86442600	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:86442200-86442800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr1:86442200-86442800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:86442200-86443200	Weak transcription	Fetal Lung	lung
48	chr1:86442400-86444000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr1:86442600-86446400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:86442800-86443000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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