Variant report

Variant	nsv871501
Chromosome Location	chr1:77382835-77444267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2213 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:2213 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1252579	chr1:77382835-77382836	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553288717	chr1:77382868-77382869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74092223	chr1:77382885-77382886	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529558313	chr1:77382896-77382897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs367657957	chr1:77382993-77382994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562998791	chr1:77382998-77382999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs530529548	chr1:77383025-77383026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148686155	chr1:77383048-77383049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs560897090	chr1:77383068-77383069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs74092224	chr1:77383116-77383117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78248203	chr1:77383117-77383118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111712611	chr1:77383145-77383146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571614528	chr1:77383183-77383184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533315970	chr1:77383212-77383213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551806336	chr1:77383229-77383230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542111383	chr1:77383302-77383303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190187749	chr1:77383402-77383403	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570126438	chr1:77383429-77383430	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs181438613	chr1:77383442-77383443	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555860215	chr1:77383473-77383474	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567949223	chr1:77383484-77383485	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147823197	chr1:77383494-77383495	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35267018	chr1:77383591-77383592	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116633310	chr1:77383611-77383612	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186542436	chr1:77383617-77383618	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570177817	chr1:77383621-77383622	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544565261	chr1:77383631-77383632	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556554686	chr1:77383657-77383658	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188496897	chr1:77383658-77383659	Flanking Active TSS Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542341702	chr1:77383812-77383813	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561078005	chr1:77383824-77383825	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528268915	chr1:77383835-77383836	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180912165	chr1:77383865-77383866	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539255417	chr1:77383927-77383928	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565134659	chr1:77384084-77384085	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371692956	chr1:77384106-77384107	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141688324	chr1:77384131-77384132	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185176524	chr1:77384132-77384133	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569931256	chr1:77384136-77384137	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12119415	chr1:77384185-77384186	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571592204	chr1:77384228-77384229	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1252580	chr1:77384229-77384230	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs559283474	chr1:77384276-77384277	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567795815	chr1:77384277-77384278	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs151049967	chr1:77384286-77384287	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183968718	chr1:77384294-77384295	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs5775368	chr1:77384302-77384303	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs397787657	chr1:77384322-77384323	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201074097	chr1:77384323-77384324	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186912520	chr1:77384349-77384350	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
lymphocytic leukemia	21291569	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	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
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77360600-77384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:77374600-77396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:77374800-77383400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:77381200-77384400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:77381200-77384800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:77382000-77383600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:77382400-77383000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:77383000-77384800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:77383400-77383800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:77383600-77383800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:77383800-77384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:77383800-77384400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:77384400-77384600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:77384400-77385000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:77384400-77385200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:77384400-77385200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:77384400-77385200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:77384400-77385200	Enhancers	NHEK	skin
19	chr1:77384400-77385400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:77384400-77385600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:77384400-77385600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr1:77384400-77385800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:77384400-77385800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:77384400-77386000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:77384400-77386400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:77384600-77385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:77384600-77385200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:77384600-77386400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:77384800-77385200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:77384800-77385200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:77384800-77385200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:77384800-77385200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:77384800-77385200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:77384800-77385200	Enhancers	Gastric	stomach
35	chr1:77384800-77385200	Enhancers	HMEC	breast
36	chr1:77384800-77385400	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr1:77385200-77385800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:77385200-77386600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:77385200-77390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:77385200-77396600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:77385400-77387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:77385600-77386000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr1:77385800-77396000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:77386000-77386400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:77386400-77386800	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr1:77386800-77393600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:77387000-77387600	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr1:77387400-77387800	Enhancers	Fetal Heart	heart
49	chr1:77393000-77393800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:77393200-77393400	Active TSS	Aorta	Aorta

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