Variant report

Variant	nsv999350
Chromosome Location	chr1:77375536-77430222
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77374791..77376785-chr17:38477195..38479729,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131759	chromatin interactions

Extended variants
information (count: 1929 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1929 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17099710	chr1:77375536-77375537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553577934	chr1:77375618-77375619	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9728378	chr1:77375671-77375672	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
4	rs113087358	chr1:77375674-77375675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545852278	chr1:77375687-77375688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs539213967	chr1:77375689-77375690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557944307	chr1:77375746-77375747	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575895585	chr1:77375760-77375761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543332136	chr1:77375795-77375796	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552200412	chr1:77375960-77375961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561671960	chr1:77375965-77375966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs181789068	chr1:77376010-77376011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541861225	chr1:77376101-77376102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs75628091	chr1:77376116-77376117	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560379124	chr1:77376117-77376118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112293372	chr1:77376129-77376130	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369302638	chr1:77376130-77376131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142556587	chr1:77376156-77376157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs375245922	chr1:77376179-77376180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs113783997	chr1:77376186-77376187	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559311934	chr1:77376206-77376207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146441083	chr1:77376216-77376217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376894470	chr1:77376240-77376241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185971200	chr1:77376249-77376250	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550480299	chr1:77376264-77376265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs371513771	chr1:77376308-77376309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs568811508	chr1:77376314-77376315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76989161	chr1:77376330-77376331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs190430296	chr1:77376350-77376351	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs114735272	chr1:77376368-77376369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539537736	chr1:77376403-77376404	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs557637396	chr1:77376404-77376405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181319125	chr1:77376406-77376407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs140802545	chr1:77376411-77376412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs555231074	chr1:77376427-77376428	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35253873	chr1:77376428-77376429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4457624	chr1:77376429-77376430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2350526	chr1:77376434-77376435	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs561942930	chr1:77376453-77376454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527449158	chr1:77376490-77376491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs35159122	chr1:77376495-77376496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs541809760	chr1:77376527-77376528	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371393839	chr1:77376566-77376567	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs143137661	chr1:77376570-77376571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78863827	chr1:77376577-77376578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs146761529	chr1:77376608-77376609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs76589454	chr1:77376613-77376614	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186328499	chr1:77376628-77376629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140390773	chr1:77376688-77376689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544077103	chr1:77376701-77376702	Weak transcription	Chromatin interactive region	1 gene(s)	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:405 , 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	chr1:77371000-77382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:77374600-77396200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:77374800-77376000	Enhancers	Fetal Brain Male	brain
5	chr1:77374800-77383400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:77375200-77376000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:77375400-77375800	Enhancers	Fetal Brain Female	brain
8	chr1:77375600-77376200	Enhancers	Brain Germinal Matrix	brain
9	chr1:77376000-77381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:77381000-77381200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:77381200-77384400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:77381200-77384800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:77381800-77382000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:77382000-77383600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:77382400-77383000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr1:77383000-77384800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr1:77383400-77383800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:77383600-77383800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:77383800-77384400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr1:77383800-77384400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:77384400-77384600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:77384400-77385000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:77384400-77385200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:77384400-77385200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:77384400-77385200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr1:77384400-77385200	Enhancers	NHEK	skin
27	chr1:77384400-77385400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:77384400-77385600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:77384400-77385600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:77384400-77385800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:77384400-77385800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:77384400-77386000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr1:77384400-77386400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:77384600-77385200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:77384600-77385200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:77384600-77386400	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:77384800-77385200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr1:77384800-77385200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:77384800-77385200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:77384800-77385200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:77384800-77385200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr1:77384800-77385200	Enhancers	Gastric	stomach
43	chr1:77384800-77385200	Enhancers	HMEC	breast
44	chr1:77384800-77385400	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:77385200-77385800	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr1:77385200-77386600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:77385200-77390400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:77385200-77396600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:77385400-77387000	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr1:77385600-77386000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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