Variant report

Variant	nsv546156
Chromosome Location	chr1:45638486-45645097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:
2	chr1:45607017..45608869-chr1:45636560..45638777,2	MCF-7	breast:
3	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
4	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:

Extended variants
information (count: 238 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1226749	chr1:45638486-45638487	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375157037	chr1:45638586-45638587	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs116733763	chr1:45638595-45638596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116231111	chr1:45638604-45638605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569474336	chr1:45638656-45638657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538489349	chr1:45638667-45638668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558376243	chr1:45638672-45638673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571806500	chr1:45638693-45638694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571326317	chr1:45638695-45638696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371578783	chr1:45638697-45638698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553901003	chr1:45638706-45638707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2883901	chr1:45638707-45638708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542568865	chr1:45638736-45638737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs560873898	chr1:45638747-45638748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556084826	chr1:45638756-45638757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146625138	chr1:45638828-45638829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190442952	chr1:45638833-45638834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558771679	chr1:45638878-45638879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528045680	chr1:45638908-45638909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564715358	chr1:45638917-45638918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72888964	chr1:45638925-45638926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs541084422	chr1:45639025-45639026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560729825	chr1:45639062-45639063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181299750	chr1:45639241-45639242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs111690347	chr1:45639242-45639243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141448837	chr1:45639244-45639245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377631554	chr1:45639269-45639270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186206707	chr1:45639285-45639286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191109525	chr1:45639359-45639360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115004324	chr1:45639396-45639397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12116985	chr1:45639419-45639420	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182475853	chr1:45639582-45639583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs187610769	chr1:45639616-45639617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs536689646	chr1:45639636-45639637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556121748	chr1:45639660-45639661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113041234	chr1:45639684-45639685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538516468	chr1:45639695-45639696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1226748	chr1:45639741-45639742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs572162210	chr1:45639760-45639761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112005268	chr1:45639761-45639762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191934733	chr1:45639765-45639766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs3009968	chr1:45639768-45639769	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs368638860	chr1:45639811-45639812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574441203	chr1:45639872-45639873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543478829	chr1:45639995-45639996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183050013	chr1:45640001-45640002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150322759	chr1:45640004-45640005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540287162	chr1:45640073-45640074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61788455	chr1:45640099-45640100	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs1226747	chr1:45640116-45640117	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:45635800-45638600	Enhancers	Hela-S3	cervix
3	chr1:45636600-45639600	Weak transcription	Pancreas	Pancrea
4	chr1:45637400-45638800	Enhancers	Liver	Liver
5	chr1:45637800-45639000	Enhancers	A549	lung
6	chr1:45638000-45638800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:45638200-45638600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:45638200-45638600	Enhancers	Fetal Intestine Large	intestine
9	chr1:45638200-45638600	Flanking Active TSS	HepG2	liver
10	chr1:45638400-45638800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:45638400-45639000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:45638600-45639400	Enhancers	Brain Germinal Matrix	brain
13	chr1:45638600-45640000	Enhancers	HepG2	liver
14	chr1:45638600-45642400	Weak transcription	Hela-S3	cervix
15	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
16	chr1:45638800-45639000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:45638800-45639800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr1:45639000-45642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:45639000-45644800	Weak transcription	A549	lung
20	chr1:45639000-45645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:45639600-45640000	Enhancers	Pancreas	Pancrea
22	chr1:45639800-45640400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr1:45640000-45640400	Weak transcription	HepG2	liver
24	chr1:45640400-45640600	Enhancers	HepG2	liver
25	chr1:45640600-45645000	Weak transcription	HepG2	liver
26	chr1:45642400-45642800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:45642400-45645000	Enhancers	Hela-S3	cervix
28	chr1:45642600-45643800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:45643000-45643400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:45643000-45644200	Enhancers	Small Intestine	intestine
31	chr1:45643200-45644000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:45643400-45644000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:45643600-45644200	Enhancers	Fetal Intestine Large	intestine
34	chr1:45643800-45645800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:45644800-45645800	ZNF genes & repeats	A549	lung
36	chr1:45645000-45645600	Flanking Active TSS	Hela-S3	cervix
37	chr1:45645000-45645600	ZNF genes & repeats	HepG2	liver
38	chr1:45645000-45646000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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