Variant report

Variant	nsv546727
Chromosome Location	chr1:86381650-86416725
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:86373838..86377077-chr1:86378435..86381961,4	K562	blood:
2	chr1:86397392..86400390-chr9:100675486..100677661,2	K562	blood:
3	chr1:86397300..86400343-chr9:100673063..100676674,4	K562	blood:

Variant related genes	Relation type
ENSG00000136932	chromatin interactions

Extended variants
information (count: 1227 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12136958	chr1:86381650-86381651	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566213889	chr1:86381651-86381652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558918532	chr1:86381666-86381667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534399148	chr1:86381771-86381772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372381675	chr1:86381773-86381774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180842906	chr1:86381775-86381776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11161710	chr1:86381840-86381841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs571475481	chr1:86381855-86381856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186572003	chr1:86381881-86381882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113150115	chr1:86381934-86381935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369651130	chr1:86382023-86382024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557017279	chr1:86382045-86382046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201404696	chr1:86382161-86382162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372614798	chr1:86382201-86382202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573501749	chr1:86382233-86382234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573856370	chr1:86382238-86382239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141346684	chr1:86382257-86382258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552562842	chr1:86382285-86382286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554703565	chr1:86382310-86382311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572479072	chr1:86382322-86382323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544708729	chr1:86382369-86382370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564599776	chr1:86382408-86382409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578141942	chr1:86382470-86382471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574459260	chr1:86382512-86382513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543992376	chr1:86382551-86382552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139140182	chr1:86382576-86382577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72954510	chr1:86382674-86382675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs147153417	chr1:86382675-86382676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140304204	chr1:86382677-86382678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs191025198	chr1:86382795-86382796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs200048824	chr1:86382800-86382801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs536875249	chr1:86382811-86382812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12093605	chr1:86382840-86382841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs540289608	chr1:86382853-86382854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562163196	chr1:86382935-86382936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144242613	chr1:86382965-86382966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185939051	chr1:86382981-86382982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567313025	chr1:86382983-86382984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576459309	chr1:86383032-86383033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536164681	chr1:86383072-86383073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191488138	chr1:86383078-86383079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377252268	chr1:86383127-86383128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538240867	chr1:86383133-86383134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558277338	chr1:86383237-86383238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368675126	chr1:86383254-86383255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531089550	chr1:86383278-86383279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545380140	chr1:86383342-86383343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573364233	chr1:86383368-86383369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375497099	chr1:86383369-86383370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538861655	chr1:86383391-86383392	Weak transcription	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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86366800-86386400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:86373400-86382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:86375000-86384800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:86381400-86386000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:86382200-86382800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:86384800-86387800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:86386000-86387600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr1:86386000-86387600	ZNF genes & repeats	Fetal Lung	lung
9	chr1:86386400-86387200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr1:86387600-86399000	Weak transcription	Fetal Lung	lung
11	chr1:86387600-86399400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:86391000-86403200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:86392600-86393000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr1:86392600-86393600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:86393600-86402000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:86399000-86401400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:86399000-86402400	Enhancers	Fetal Lung	lung
18	chr1:86399200-86400600	Enhancers	Fetal Stomach	stomach
19	chr1:86399400-86400000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:86399600-86400200	Enhancers	Adipose Nuclei	Adipose
21	chr1:86400000-86401600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:86400200-86401200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:86400200-86402800	Enhancers	Liver	Liver
24	chr1:86400400-86400600	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:86400600-86401400	Weak transcription	Fetal Stomach	stomach
26	chr1:86400600-86402600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr1:86401200-86403000	Enhancers	Adipose Nuclei	Adipose
28	chr1:86401200-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:86401400-86401800	Enhancers	Fetal Stomach	stomach
30	chr1:86401400-86402200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:86401600-86404800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr1:86401800-86404600	Weak transcription	Fetal Stomach	stomach
33	chr1:86402000-86405400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:86402200-86403000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:86402400-86402600	Flanking Active TSS	Fetal Lung	lung
36	chr1:86402600-86402800	Enhancers	Stomach Smooth Muscle	stomach
37	chr1:86402600-86403400	Genic enhancers	Fetal Lung	lung
38	chr1:86402800-86403400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr1:86403000-86406200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:86403200-86404200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr1:86403400-86406200	Weak transcription	Fetal Lung	lung
42	chr1:86403800-86405000	Weak transcription	Psoas Muscle	Psoas
43	chr1:86404200-86416000	Weak transcription	Primary hematopoietic stem cells	blood
44	chr1:86404600-86405600	Enhancers	Fetal Stomach	stomach
45	chr1:86404800-86411200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:86405000-86405200	ZNF genes & repeats	Psoas Muscle	Psoas
47	chr1:86405400-86407400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:86405600-86406000	Weak transcription	Fetal Stomach	stomach
49	chr1:86406000-86407600	Enhancers	Fetal Stomach	stomach
50	chr1:86406200-86406400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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