Variant report

Variant	nsv945803
Chromosome Location	chr1:62490443-62495121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62488087..62490869-chr1:62492445..62494953,2	K562	blood:
2	chr1:62481608..62483564-chr1:62488703..62491650,2	MCF-7	breast:
3	chr1:62488087..62490869-chr1:62492445..62494953,2	K562	blood:

Extended variants
information (count: 158 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566475172	chr1:62490463-62490464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370627825	chr1:62490529-62490530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550145945	chr1:62490556-62490557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143994379	chr1:62490639-62490640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370390413	chr1:62490647-62490648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539704395	chr1:62490669-62490670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557784866	chr1:62490745-62490746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188486860	chr1:62490760-62490761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192952082	chr1:62490777-62490778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555005382	chr1:62490797-62490798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs555483055	chr1:62490912-62490913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs4297332	chr1:62490961-62490962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1930241	chr1:62490979-62490980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs367693755	chr1:62490988-62490989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543952294	chr1:62490993-62490994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374422587	chr1:62491041-62491042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs184755108	chr1:62491113-62491114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573742653	chr1:62491134-62491135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542530376	chr1:62491186-62491187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140832827	chr1:62491243-62491244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545653033	chr1:62491291-62491292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560623187	chr1:62491310-62491311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs72915868	chr1:62491360-62491361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7537406	chr1:62491447-62491448	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12036906	chr1:62491452-62491453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7537239	chr1:62491461-62491462	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs6683820	chr1:62491589-62491590	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs377175902	chr1:62491626-62491627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs148517323	chr1:62491646-62491647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187926531	chr1:62491663-62491664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551608387	chr1:62491672-62491673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs566441330	chr1:62491692-62491693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191806098	chr1:62491723-62491724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs555142956	chr1:62491763-62491764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79953821	chr1:62491779-62491780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537909210	chr1:62491798-62491799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556004920	chr1:62491840-62491841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116689226	chr1:62491866-62491867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7537873	chr1:62491904-62491905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs553842325	chr1:62491958-62491959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183616076	chr1:62491983-62491984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371191601	chr1:62491992-62491993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142683076	chr1:62492023-62492024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200824830	chr1:62492135-62492136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147505456	chr1:62492145-62492146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs138154266	chr1:62492147-62492148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113183177	chr1:62492153-62492154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61391755	chr1:62492158-62492159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs55936746	chr1:62492160-62492161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386367134	chr1:62492172-62492173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
2	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
3	chr1:62424200-62494200	Weak transcription	Esophagus	oesophagus
4	chr1:62458800-62521400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:62459000-62516000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:62459000-62530600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:62459200-62511200	Weak transcription	Gastric	stomach
8	chr1:62459200-62550000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:62459400-62493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:62459600-62494200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:62460000-62499600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:62460000-62516400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:62460000-62544600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr1:62460200-62516000	Weak transcription	HMEC	breast
15	chr1:62466400-62494200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:62469000-62533600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:62474200-62518600	Weak transcription	Primary T cells from cord blood	blood
18	chr1:62479400-62493600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr1:62479400-62496000	Weak transcription	Fetal Kidney	kidney
20	chr1:62480600-62513000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:62484400-62492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:62484400-62523000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:62484400-62562200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:62484600-62492400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:62484600-62493800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:62484600-62494400	Weak transcription	Liver	Liver
27	chr1:62484600-62506000	Weak transcription	NHEK	skin
28	chr1:62484800-62511200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:62485000-62494000	Weak transcription	Fetal Intestine Small	intestine
30	chr1:62486000-62492600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:62486200-62517600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr1:62488000-62498000	Weak transcription	Fetal Heart	heart
33	chr1:62488400-62491600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr1:62488400-62494200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr1:62488400-62494600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:62488400-62494600	Weak transcription	Brain Germinal Matrix	brain
37	chr1:62488400-62497600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:62488400-62497600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:62488400-62521200	Weak transcription	Ovary	ovary
40	chr1:62488600-62494400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:62488600-62494400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:62488600-62499000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:62488800-62491200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:62489800-62490600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:62490200-62490600	Enhancers	Fetal Brain Male	brain
46	chr1:62490200-62490600	Enhancers	Fetal Brain Female	brain
47	chr1:62490200-62491800	Enhancers	Left Ventricle	heart
48	chr1:62490200-62491800	Enhancers	Psoas Muscle	Psoas
49	chr1:62490200-62492400	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr1:62490200-62493000	Enhancers	Skeletal Muscle Female	skeletal muscle

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