Variant report

Variant	nsv546314
Chromosome Location	chr1:58915624-58936384
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:58920454..58922828-chr1:58933133..58935676,2	K562	blood:
2	chr1:58919238..58922584-chr1:58922998..58926131,3	K562	blood:
3	chr1:58928999..58931330-chr1:58934194..58936691,3	K562	blood:
4	chr1:58920454..58922828-chr1:58933133..58935676,2	K562	blood:
5	chr1:58919238..58922584-chr1:58922998..58926131,3	K562	blood:
6	chr1:58928999..58931330-chr1:58934194..58936691,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TACSTD2-4	chr1:58928224-58928466	NONHSAT003504
2	lnc-TACSTD2-3	chr1:58933599-58934677	NONHSAT003505

No data

Extended variants
information (count: 835 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:835 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs706450	chr1:58915624-58915625	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149079405	chr1:58915673-58915674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77455576	chr1:58915724-58915725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78185994	chr1:58915766-58915767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546747609	chr1:58915824-58915825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569492356	chr1:58915838-58915839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566862357	chr1:58915884-58915885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538940141	chr1:58915903-58915904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558937599	chr1:58915931-58915932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs849477	chr1:58915956-58915957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs186107318	chr1:58915983-58915984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561202907	chr1:58916061-58916062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371346113	chr1:58916076-58916077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368410534	chr1:58916084-58916085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540438631	chr1:58916088-58916089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554001393	chr1:58916091-58916092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367702378	chr1:58916092-58916093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577259394	chr1:58916116-58916117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190659087	chr1:58916135-58916136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562540120	chr1:58916136-58916137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531224518	chr1:58916149-58916150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs180767428	chr1:58916165-58916166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561635179	chr1:58916179-58916180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143196493	chr1:58916184-58916185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12411175	chr1:58916197-58916198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566701203	chr1:58916222-58916223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532701933	chr1:58916223-58916224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs11207231	chr1:58916226-58916227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569504815	chr1:58916227-58916228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534310528	chr1:58916242-58916243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537855274	chr1:58916283-58916284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548525096	chr1:58916287-58916288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568608272	chr1:58916295-58916296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555922600	chr1:58916299-58916300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567645956	chr1:58916300-58916301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554040366	chr1:58916318-58916319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186155821	chr1:58916320-58916321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs12097842	chr1:58916342-58916343	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs556209010	chr1:58916353-58916354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs368564829	chr1:58916382-58916383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576244747	chr1:58916383-58916384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191083513	chr1:58916413-58916414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369331971	chr1:58916427-58916428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs60658478	chr1:58916451-58916452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566352013	chr1:58916467-58916468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs137879006	chr1:58916525-58916526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182833489	chr1:58916570-58916571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs35068882	chr1:58916614-58916615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529858406	chr1:58916646-58916647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs860285	chr1:58916647-58916648	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58887200-58919200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:58893400-58929200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:58898800-58929000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:58899000-58934200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr1:58906200-58932000	Weak transcription	Ovary	ovary
6	chr1:58911200-58920000	Weak transcription	Lung	lung
7	chr1:58913400-58919600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:58913800-58919600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:58914000-58930800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:58914400-58919000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:58914600-58917000	Weak transcription	HepG2	liver
12	chr1:58915000-58920800	Weak transcription	Primary T cells from cord blood	blood
13	chr1:58915400-58922600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:58915600-58917800	Enhancers	Liver	Liver
15	chr1:58917000-58917400	Enhancers	HepG2	liver
16	chr1:58917400-58917800	Flanking Active TSS	HepG2	liver
17	chr1:58917600-58917800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:58917800-58918000	Flanking Active TSS	Liver	Liver
19	chr1:58917800-58918200	Enhancers	HepG2	liver
20	chr1:58918000-58919400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:58918000-58920000	Enhancers	Liver	Liver
22	chr1:58918200-58918600	Weak transcription	HepG2	liver
23	chr1:58918400-58974000	Weak transcription	Spleen	Spleen
24	chr1:58918600-58919800	Enhancers	HepG2	liver
25	chr1:58919000-58921200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:58919200-58919400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr1:58919200-58919800	Strong transcription	Stomach Smooth Muscle	stomach
28	chr1:58919400-58921200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:58919400-58921200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:58919600-58919800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr1:58919600-58920400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:58919800-58920200	Active TSS	HepG2	liver
33	chr1:58919800-58920400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:58919800-58923000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:58920000-58920200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:58920000-58920400	Weak transcription	Liver	Liver
37	chr1:58920000-58920600	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:58920000-58920600	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr1:58920000-58920600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:58920000-58920800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:58920000-58921000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr1:58920000-58921000	Strong transcription	Lung	lung
43	chr1:58920200-58920400	Flanking Active TSS	HepG2	liver
44	chr1:58920200-58920800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr1:58920400-58920600	Enhancers	HepG2	liver
46	chr1:58920400-58921200	Enhancers	Liver	Liver
47	chr1:58920400-58921200	Enhancers	Fetal Muscle Leg	muscle
48	chr1:58920400-58929000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:58920400-58934000	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:58920600-58920800	Enhancers	Adipose Nuclei	Adipose

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