Variant report

Variant	nsv546640
Chromosome Location	chr1:80196238-80322585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:80202188..80204653-chr1:80206731..80209181,2	MCF-7	breast:
2	chr1:80202188..80204653-chr1:80206731..80209181,2	MCF-7	breast:
3	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:
4	chr1:80236464..80239365-chr1:80242277..80244364,2	K562	blood:

Extended variants
information (count: 1959 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1959 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6413808	chr1:80197401-80197402	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6665279	chr1:80197405-80197406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563683742	chr1:80197409-80197410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555459657	chr1:80197501-80197502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7512562	chr1:80197546-80197547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2103119	chr1:80197572-80197573	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs151045087	chr1:80197583-80197584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7543691	chr1:80197619-80197620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543829782	chr1:80197620-80197621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560762579	chr1:80197644-80197645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528229209	chr1:80197646-80197647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564095436	chr1:80197670-80197671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546388337	chr1:80197689-80197690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12405444	chr1:80197749-80197750	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs532221316	chr1:80197788-80197789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372085528	chr1:80197789-80197790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11806124	chr1:80197790-80197791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6665734	chr1:80197792-80197793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76389046	chr1:80197794-80197795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2091124	chr1:80197795-80197796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs78373593	chr1:80197796-80197797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79631063	chr1:80197798-80197799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61766271	chr1:80197800-80197801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs537359923	chr1:80197877-80197878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549658290	chr1:80198011-80198012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs377242337	chr1:80198035-80198036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79861946	chr1:80198080-80198081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190158590	chr1:80198136-80198137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553593840	chr1:80198156-80198157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566787722	chr1:80207205-80207206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs180776825	chr1:80207222-80207223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541491533	chr1:80207253-80207254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144590376	chr1:80207263-80207264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577073410	chr1:80207331-80207332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147881214	chr1:80207340-80207341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556338874	chr1:80207341-80207342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10874064	chr1:80207353-80207354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140490804	chr1:80207356-80207357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373516727	chr1:80207366-80207367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546175228	chr1:80207372-80207373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185445385	chr1:80207416-80207417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573501603	chr1:80207453-80207454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190203200	chr1:80207461-80207462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10874065	chr1:80207492-80207493	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115398063	chr1:80207517-80207518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs550753451	chr1:80207584-80207585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10782697	chr1:80207601-80207602	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs530112942	chr1:80207633-80207634	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs548588549	chr1:80207637-80207638	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs10874066	chr1:80207652-80207653	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

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
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80197400-80198200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:80207200-80207600	Enhancers	GM12878-XiMat	blood
3	chr1:80207600-80208000	Flanking Active TSS	GM12878-XiMat	blood
4	chr1:80208000-80208800	Enhancers	GM12878-XiMat	blood
5	chr1:80211600-80212200	Enhancers	HUVEC	blood vessel
6	chr1:80211800-80212600	Enhancers	Stomach Mucosa	stomach
7	chr1:80212000-80212200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr1:80215000-80215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:80226000-80226400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:80226000-80226600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:80226200-80226800	Enhancers	Adipose Nuclei	Adipose
12	chr1:80242000-80243800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:80243000-80243400	Enhancers	Fetal Heart	heart
14	chr1:80243000-80243800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:80243000-80244600	Enhancers	GM12878-XiMat	blood
16	chr1:80243200-80244000	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:80247200-80250600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:80249200-80250800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:80249400-80251400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:80250600-80250800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:80250800-80251400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:80251400-80251600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:80251600-80257600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:80256800-80257200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:80257000-80257200	Enhancers	Pancreas	Pancrea
26	chr1:80257000-80258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:80257200-80257800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:80257200-80258000	Weak transcription	Pancreas	Pancrea
29	chr1:80257200-80258400	Enhancers	Aorta	Aorta
30	chr1:80257600-80258200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:80257600-80258600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:80258000-80258200	Enhancers	Pancreas	Pancrea
33	chr1:80258200-80267400	Weak transcription	Pancreas	Pancrea
34	chr1:80262600-80262800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:80262800-80264000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:80263000-80264000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:80269200-80269600	Enhancers	Fetal Heart	heart
38	chr1:80269200-80269800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:80271200-80272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:80271600-80271800	Enhancers	Pancreas	Pancrea
41	chr1:80271600-80272200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:80272000-80272600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:80275800-80276000	Enhancers	NHLF	lung
44	chr1:80275800-80278000	Enhancers	HUVEC	blood vessel
45	chr1:80276000-80278600	Weak transcription	NHLF	lung
46	chr1:80276600-80277800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:80276600-80278400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:80276800-80277400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:80276800-80277400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:80276800-80278400	Enhancers	NHEK	skin

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