Variant report

Variant	nsv546565
Chromosome Location	chr1:73015588-73090608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73088631..73089551-chr1:73310778..73311326,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEGR1-4	chr1:73089021-73089071	NONHSAT003911
2	lnc-FPGT-12	chr1:73021941-73022154	NONHSAT003912
3	lnc-FPGT-12	chr1:73018378-73018564	NONHSAT003912
4	lnc-FPGT-12	chr1:73029336-73029551	NONHSAT003912
5	lnc-FPGT-6	chr1:73023544-73023568	XLOC_000253
6	lnc-FPGT-6	chr1:73023543-73023568	NONHSAT003913
7	lnc-FPGT-6	chr1:73020892-73021081	NONHSAT003913
8	lnc-FPGT-12	chr1:73024898-73025252	NONHSAT003912
9	lnc-FPGT-6	chr1:73020893-73021081	XLOC_000253
10	lnc-FPGT-12	chr1:73016544-73016628	NONHSAT003912

No data

Extended variants
information (count: 1229 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1229 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1418625	chr1:73015588-73015589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs138663637	chr1:73015662-73015663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536195940	chr1:73015686-73015687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs75335411	chr1:73015715-73015716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569989467	chr1:73015747-73015748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182123946	chr1:73015761-73015762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142861432	chr1:73015782-73015783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572174209	chr1:73015803-73015804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371966367	chr1:73015854-73015855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72951163	chr1:73015886-73015887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs556437660	chr1:73015898-73015899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577400962	chr1:73015909-73015910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531178098	chr1:73015925-73015926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543584773	chr1:73015927-73015928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72686612	chr1:73015936-73015937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192145809	chr1:73015958-73015959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545667236	chr1:73015981-73015982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565454624	chr1:73016045-73016046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199667157	chr1:73016076-73016077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147435033	chr1:73016087-73016088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148068820	chr1:73016125-73016126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141722958	chr1:73016160-73016161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530123052	chr1:73016240-73016241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550052500	chr1:73016243-73016244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570019409	chr1:73016276-73016277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1613435	chr1:73016284-73016285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552421769	chr1:73016285-73016286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534854247	chr1:73016287-73016288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565842935	chr1:73016299-73016300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553184419	chr1:73016319-73016320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79418011	chr1:73016344-73016345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs183967844	chr1:73016383-73016384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150574074	chr1:73016388-73016389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533743604	chr1:73016408-73016409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537120163	chr1:73016441-73016442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556812629	chr1:73016456-73016457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576738019	chr1:73016457-73016458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368444584	chr1:73016497-73016498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560676876	chr1:73016549-73016550	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs545503957	chr1:73016559-73016560	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs559155199	chr1:73016576-73016577	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs386632341	chr1:73016663-73016664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143702968	chr1:73016664-73016665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531357495	chr1:73016696-73016697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561141463	chr1:73016764-73016765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1664371	chr1:73016775-73016776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563207050	chr1:73016788-73016789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543865038	chr1:73016791-73016792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563654681	chr1:73016887-73016888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376693040	chr1:73016939-73016940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73012200-73028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:73013600-73016200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:73016600-73023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:73017400-73023200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:73019000-73023000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:73023000-73023400	Enhancers	Dnd41	blood
7	chr1:73023000-73023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:73023000-73023600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:73023000-73023600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:73023000-73023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr1:73023200-73023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:73023200-73023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:73023200-73023600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:73023400-73023600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:73023400-73023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:73023400-73023800	Flanking Active TSS	Dnd41	blood
17	chr1:73023600-73025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:73023800-73024000	Enhancers	Dnd41	blood
19	chr1:73025400-73026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:73025800-73026400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:73026400-73028400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:73028200-73028800	Enhancers	Fetal Heart	heart
23	chr1:73028400-73030800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:73028600-73028800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:73028800-73030600	Weak transcription	Fetal Heart	heart
26	chr1:73029000-73034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:73030600-73031000	Enhancers	Fetal Heart	heart
28	chr1:73030600-73031200	Enhancers	Left Ventricle	heart
29	chr1:73031000-73032800	Weak transcription	Fetal Heart	heart
30	chr1:73031200-73032400	Weak transcription	Left Ventricle	heart
31	chr1:73032200-73034200	Enhancers	Brain Germinal Matrix	brain
32	chr1:73032400-73033000	Enhancers	Left Ventricle	heart
33	chr1:73032800-73033400	Enhancers	Fetal Brain Male	brain
34	chr1:73032800-73033800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:73032800-73034200	Enhancers	Fetal Heart	heart
36	chr1:73032800-73034200	Enhancers	Fetal Lung	lung
37	chr1:73033200-73034200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:73033200-73034400	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr1:73033400-73034000	Enhancers	Brain Cingulate Gyrus	brain
40	chr1:73033400-73034600	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:73033400-73034600	Enhancers	Dnd41	blood
42	chr1:73033600-73034400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:73033800-73034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:73033800-73034400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr1:73033800-73034600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:73033800-73034600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:73034000-73034400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:73034000-73035000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:73034200-73036000	Weak transcription	Fetal Heart	heart
50	chr1:73034200-73036200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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