Variant report

Variant	nsv822998
Chromosome Location	chr1:62613701-62616280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546346361	chr1:62613780-62613781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs66743140	chr1:62613787-62613788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61777733	chr1:62613788-62613789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201302131	chr1:62613790-62613791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369395805	chr1:62613791-62613792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200954901	chr1:62613792-62613793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74323279	chr1:62613793-62613794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59697245	chr1:62613813-62613814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535040465	chr1:62613822-62613823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556589095	chr1:62613827-62613828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575523020	chr1:62613850-62613851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28587101	chr1:62613884-62613885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200026574	chr1:62613910-62613911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202048502	chr1:62613951-62613952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371809382	chr1:62613955-62613956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201639193	chr1:62613961-62613962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183715116	chr1:62614029-62614030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368503415	chr1:62614074-62614075	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375108005	chr1:62614084-62614085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372230921	chr1:62614093-62614094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115001820	chr1:62614095-62614096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575931323	chr1:62614096-62614097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574184486	chr1:62614101-62614102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369800747	chr1:62614110-62614111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371726896	chr1:62614111-62614112	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2774939	chr1:62614112-62614113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs562908387	chr1:62614129-62614130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577217196	chr1:62614133-62614134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530806986	chr1:62614154-62614155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61777734	chr1:62614164-62614165	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564424725	chr1:62614167-62614168	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187744742	chr1:62614255-62614256	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546779297	chr1:62614293-62614294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116727266	chr1:62614297-62614298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139505238	chr1:62614338-62614339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72677979	chr1:62614340-62614341	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs76297469	chr1:62614354-62614355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72677980	chr1:62614357-62614358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79779959	chr1:62614364-62614365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72677981	chr1:62614366-62614367	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs76076687	chr1:62614376-62614377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560586441	chr1:62614404-62614405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144918090	chr1:62614445-62614446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2666494	chr1:62614453-62614454	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs2666493	chr1:62614464-62614465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs553515315	chr1:62614513-62614514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185010513	chr1:62614538-62614539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111624621	chr1:62614570-62614571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190250826	chr1:62614578-62614579	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181154804	chr1:62614579-62614580	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
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
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:151 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62508200-62628400	Weak transcription	Colonic Mucosa	Colon
2	chr1:62536200-62619400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr1:62548400-62629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:62551800-62614000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:62554200-62614000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:62563600-62617400	Weak transcription	Brain Anterior Caudate	brain
7	chr1:62566200-62614000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:62576600-62618000	Weak transcription	Psoas Muscle	Psoas
9	chr1:62580200-62617200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:62588600-62622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:62593200-62621800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:62593400-62617600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:62593600-62636200	Weak transcription	Spleen	Spleen
14	chr1:62594400-62614800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:62595200-62614200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:62595200-62625200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:62595400-62614000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:62596000-62614000	Weak transcription	Left Ventricle	heart
19	chr1:62596000-62617800	Weak transcription	Aorta	Aorta
20	chr1:62596200-62614200	Weak transcription	Ovary	ovary
21	chr1:62598600-62614000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:62599000-62616000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:62602800-62614000	Weak transcription	HMEC	breast
24	chr1:62603000-62614200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:62603800-62613800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr1:62603800-62617200	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:62603800-62617400	Weak transcription	Gastric	stomach
28	chr1:62603800-62617800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:62604000-62614000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:62604000-62614000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:62604600-62617800	Weak transcription	Esophagus	oesophagus
32	chr1:62605000-62631800	Weak transcription	Lung	lung
33	chr1:62605200-62614000	Weak transcription	Liver	Liver
34	chr1:62605200-62622400	Weak transcription	Fetal Brain Female	brain
35	chr1:62605200-62624400	Weak transcription	Right Atrium	heart
36	chr1:62605400-62613800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:62606000-62617400	Weak transcription	A549	lung
38	chr1:62606400-62628600	Weak transcription	Stomach Mucosa	stomach
39	chr1:62606800-62614000	Weak transcription	Fetal Stomach	stomach
40	chr1:62607000-62630000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:62608000-62618800	Weak transcription	Brain Germinal Matrix	brain
42	chr1:62608400-62614000	Weak transcription	Right Ventricle	heart
43	chr1:62608400-62614000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:62608400-62617600	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:62608400-62618800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:62608400-62643600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr1:62608600-62614000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:62608600-62614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:62608600-62618400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:62608800-62614000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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