Variant report

Variant	nsv546150
Chromosome Location	chr1:45635802-45643039
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45475818..45477746-chr1:45634915..45637368,2	K562	blood:
2	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:
3	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:
4	chr1:45480011..45482836-chr1:45633492..45635826,3	K562	blood:
5	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
6	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
7	chr1:45607017..45608869-chr1:45636560..45638777,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126107	chromatin interactions
ENSG00000126088	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:259 , 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	rs1698295	chr1:45635802-45635803	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190611423	chr1:45635938-45635939	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184103301	chr1:45635992-45635993	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371656551	chr1:45636028-45636029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562123281	chr1:45636045-45636046	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368972230	chr1:45636077-45636078	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575326062	chr1:45636099-45636100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs56817624	chr1:45636114-45636115	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs78240644	chr1:45636115-45636116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs188657560	chr1:45636244-45636245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs570800158	chr1:45636285-45636286	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138427332	chr1:45636331-45636332	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546843800	chr1:45636336-45636337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs148851071	chr1:45636338-45636339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs193181055	chr1:45636374-45636375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs555131506	chr1:45636403-45636404	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs538958816	chr1:45636424-45636425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs143528548	chr1:45636460-45636461	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112829900	chr1:45636540-45636541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs71587077	chr1:45636555-45636556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs557324067	chr1:45636574-45636575	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs974143	chr1:45636576-45636577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs148031621	chr1:45636613-45636614	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544423963	chr1:45636731-45636732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553172517	chr1:45636747-45636748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573315046	chr1:45636756-45636757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554666103	chr1:45636802-45636803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs184277870	chr1:45636828-45636829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs562085888	chr1:45636846-45636847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575682867	chr1:45636871-45636872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1612575	chr1:45636892-45636893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs77922463	chr1:45636895-45636896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs533285011	chr1:45636915-45636916	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs143658028	chr1:45637086-45637087	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147214948	chr1:45637101-45637102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs529035695	chr1:45637110-45637111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs187163340	chr1:45637138-45637139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568902326	chr1:45637161-45637162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537533450	chr1:45637224-45637225	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550992157	chr1:45637241-45637242	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs58600794	chr1:45637274-45637275	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs372662872	chr1:45637291-45637292	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs539760997	chr1:45637304-45637305	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191666101	chr1:45637348-45637349	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183812730	chr1:45637355-45637356	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs535708967	chr1:45637433-45637434	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373330234	chr1:45637462-45637463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs539823839	chr1:45637480-45637481	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs138945867	chr1:45637498-45637499	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189495459	chr1:45637646-45637647	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45635000-45636000	Weak transcription	HepG2	liver
2	chr1:45635000-45636400	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr1:45635600-45637400	Enhancers	A549	lung
4	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:45635800-45638600	Enhancers	Hela-S3	cervix
6	chr1:45636000-45637200	Enhancers	HepG2	liver
7	chr1:45636200-45636600	Enhancers	Pancreas	Pancrea
8	chr1:45636400-45637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:45636600-45639600	Weak transcription	Pancreas	Pancrea
10	chr1:45636800-45637200	Enhancers	Fetal Intestine Small	intestine
11	chr1:45637200-45637400	Flanking Active TSS	HepG2	liver
12	chr1:45637200-45637600	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:45637400-45637800	Enhancers	Fetal Intestine Small	intestine
14	chr1:45637400-45637800	Flanking Active TSS	A549	lung
15	chr1:45637400-45637800	Enhancers	HepG2	liver
16	chr1:45637400-45638800	Enhancers	Liver	Liver
17	chr1:45637600-45638000	Enhancers	Fetal Intestine Large	intestine
18	chr1:45637600-45638000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:45637800-45638200	Active TSS	HepG2	liver
20	chr1:45637800-45639000	Enhancers	A549	lung
21	chr1:45638000-45638200	Weak transcription	Fetal Intestine Large	intestine
22	chr1:45638000-45638800	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:45638200-45638600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr1:45638200-45638600	Enhancers	Fetal Intestine Large	intestine
25	chr1:45638200-45638600	Flanking Active TSS	HepG2	liver
26	chr1:45638400-45638800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:45638400-45639000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr1:45638600-45639400	Enhancers	Brain Germinal Matrix	brain
29	chr1:45638600-45640000	Enhancers	HepG2	liver
30	chr1:45638600-45642400	Weak transcription	Hela-S3	cervix
31	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
32	chr1:45638800-45639000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:45638800-45639800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:45639000-45642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:45639000-45644800	Weak transcription	A549	lung
36	chr1:45639000-45645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr1:45639600-45640000	Enhancers	Pancreas	Pancrea
38	chr1:45639800-45640400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr1:45640000-45640400	Weak transcription	HepG2	liver
40	chr1:45640400-45640600	Enhancers	HepG2	liver
41	chr1:45640600-45645000	Weak transcription	HepG2	liver
42	chr1:45642400-45642800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:45642400-45645000	Enhancers	Hela-S3	cervix
44	chr1:45642600-45643800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:45643000-45643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:45643000-45644200	Enhancers	Small Intestine	intestine

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