Variant report

Variant	nsv1000656
Chromosome Location	chr1:79303750-79337233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:79281703..79284146-chr1:79308021..79310225,2	K562	blood:
2	chr1:79299275..79301209-chr1:79305174..79307511,2	K562	blood:
3	chr1:79304951..79305958-chr1:79662942..79663752,3	MCF-7	breast:

Extended variants
information (count: 669 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:669 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12026347	chr1:79303750-79303751	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182303114	chr1:79303760-79303761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374444500	chr1:79303783-79303784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558830574	chr1:79303805-79303806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367743911	chr1:79303827-79303828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184406474	chr1:79303868-79303869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72675821	chr1:79303906-79303907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139668938	chr1:79303934-79303935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569260061	chr1:79304014-79304015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536636589	chr1:79304015-79304016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570433032	chr1:79304019-79304020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142941005	chr1:79304052-79304053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74352538	chr1:79304113-79304114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs71590723	chr1:79304114-79304115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71078515	chr1:79304149-79304150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371531171	chr1:79304180-79304181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189296456	chr1:79304234-79304235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6686351	chr1:79304264-79304265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12144512	chr1:79304269-79304270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200358162	chr1:79304284-79304285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574735100	chr1:79304299-79304300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369323920	chr1:79304329-79304330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180933134	chr1:79304350-79304351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147419523	chr1:79304358-79304359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573781653	chr1:79304359-79304360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190148871	chr1:79304369-79304370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542756101	chr1:79304433-79304434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577641834	chr1:79304434-79304435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542630952	chr1:79304466-79304467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114048774	chr1:79304528-79304529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572901238	chr1:79304543-79304544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540286929	chr1:79304584-79304585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2352520	chr1:79304621-79304622	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs553131127	chr1:79304656-79304657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559861517	chr1:79304676-79304677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551999853	chr1:79304812-79304813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563812119	chr1:79304854-79304855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181543849	chr1:79304855-79304856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549287594	chr1:79304876-79304877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567275429	chr1:79304880-79304881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112918570	chr1:79304883-79304884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs151113880	chr1:79304995-79304996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572956578	chr1:79304997-79304998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116643179	chr1:79305099-79305100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571758159	chr1:79305127-79305128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61768718	chr1:79305153-79305154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141123304	chr1:79305228-79305229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575366594	chr1:79305252-79305253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376602841	chr1:79305354-79305355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536524941	chr1:79305438-79305439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79300400-79305600	Weak transcription	HSMM	muscle
2	chr1:79302800-79303800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:79302800-79305600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:79302800-79306000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:79302800-79306200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:79302800-79306200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:79303000-79305800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:79303000-79305800	Weak transcription	Liver	Liver
9	chr1:79303000-79306000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:79303000-79306000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:79303000-79306200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:79303200-79305600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:79303400-79305600	Weak transcription	Osteobl	bone
14	chr1:79303600-79305600	Weak transcription	NHDF-Ad	bronchial
15	chr1:79303800-79305600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:79304600-79304800	Enhancers	Fetal Brain Male	brain
17	chr1:79304600-79305800	Weak transcription	NH-A	brain
18	chr1:79305600-79306200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:79305600-79306200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:79305600-79306200	Enhancers	Fetal Lung	lung
21	chr1:79305600-79306200	Enhancers	HSMM	muscle
22	chr1:79305600-79306200	Enhancers	NHDF-Ad	bronchial
23	chr1:79305600-79306200	Enhancers	Osteobl	bone
24	chr1:79305600-79306400	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:79305600-79307400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:79305800-79306200	Enhancers	Liver	Liver
27	chr1:79305800-79306200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:79305800-79306200	Enhancers	NH-A	brain
29	chr1:79305800-79306400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:79305800-79306600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:79305800-79307600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:79306000-79306200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:79306000-79306200	Active TSS	Brain Hippocampus Middle	brain
34	chr1:79306000-79306200	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:79306000-79306200	Enhancers	NHLF	lung
36	chr1:79306000-79306400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:79306000-79306600	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr1:79306000-79306800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:79306000-79306800	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:79306000-79306800	Enhancers	Brain Germinal Matrix	brain
41	chr1:79306000-79307000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:79306000-79307000	Enhancers	Adipose Nuclei	Adipose
43	chr1:79306000-79307000	Enhancers	Hela-S3	cervix
44	chr1:79306000-79307200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:79306000-79307200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:79306000-79307200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:79306000-79309600	Enhancers	Fetal Stomach	stomach
48	chr1:79306200-79306400	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr1:79306200-79306400	Enhancers	Colon Smooth Muscle	Colon
50	chr1:79306200-79306400	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links