Variant report

Variant	nsv945966
Chromosome Location	chr1:57050677-57051793
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:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:56874449..56875324-chr1:57050573..57051262,2	K562	blood:
2	chr1:55751139..55751909-chr1:57050295..57051207,2	MCF-7	breast:
3	chr1:57050265..57050916-chr1:57286447..57287375,2	MCF-7	breast:
4	chr1:55750289..55751004-chr1:57050246..57051040,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C1orf168-4	chr1:57051285-57051474	NONHSAT003453
2	lnc-C1orf168-4	chr1:57051673-57051915	NONHSAT003453

No data

Extended variants
information (count: 38 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4469733	chr1:57050680-57050681	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182362719	chr1:57050699-57050700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187407423	chr1:57050705-57050706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377639890	chr1:57050734-57050735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563763359	chr1:57050805-57050806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189364838	chr1:57050836-57050837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549579110	chr1:57050840-57050841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535983542	chr1:57050897-57050898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566123220	chr1:57050901-57050902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573060149	chr1:57050928-57050929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557169902	chr1:57050940-57050941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181017109	chr1:57050941-57050942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185568574	chr1:57050943-57050944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs542413490	chr1:57050954-57050955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112383410	chr1:57050972-57050973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138936780	chr1:57050983-57050984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536606873	chr1:57051054-57051055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190322267	chr1:57051060-57051061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs573729060	chr1:57051128-57051129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149443322	chr1:57051144-57051145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553167543	chr1:57051174-57051175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536838791	chr1:57051205-57051206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144673069	chr1:57051233-57051234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558830119	chr1:57051303-57051304	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs74998737	chr1:57051310-57051311	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs565132585	chr1:57051343-57051344	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs182858719	chr1:57051382-57051383	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs543882009	chr1:57051394-57051395	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs186124125	chr1:57051408-57051409	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs529420153	chr1:57051462-57051463	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs139527029	chr1:57051516-57051517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371181592	chr1:57051524-57051525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374524208	chr1:57051636-57051637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559918448	chr1:57051674-57051675	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs560768488	chr1:57051695-57051696	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs200919438	chr1:57051703-57051704	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs190830901	chr1:57051749-57051750	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs571646919	chr1:57051774-57051775	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57045400-57050800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:57045400-57051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:57046000-57050800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:57046200-57051400	Weak transcription	Osteobl	bone
5	chr1:57048000-57050800	Weak transcription	Liver	Liver
6	chr1:57048000-57056000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:57050200-57050800	Enhancers	Fetal Lung	lung
8	chr1:57050200-57052000	Enhancers	NHDF-Ad	bronchial
9	chr1:57050200-57052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:57050400-57050800	Weak transcription	HepG2	liver
11	chr1:57050400-57051000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:57050400-57051000	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:57050400-57051000	Enhancers	HSMM	muscle
14	chr1:57050400-57052000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:57050600-57051000	Weak transcription	A549	lung
16	chr1:57050600-57051600	Weak transcription	NHLF	lung
17	chr1:57050800-57051800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:57050800-57052000	Enhancers	Liver	Liver
19	chr1:57050800-57052200	Enhancers	HepG2	liver
20	chr1:57051000-57052000	Enhancers	A549	lung
21	chr1:57051400-57052000	Enhancers	Osteobl	bone
22	chr1:57051600-57051800	Enhancers	NHLF	lung
23	chr1:57051600-57052000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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