Variant report

Variant	nsv546568
Chromosome Location	chr1:73529275-73556846
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:2)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:73529446..73532358-chr1:73537897..73540448,2	K562	blood:
2	chr1:73529446..73532358-chr1:73537897..73540448,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-9	chr1:73549124-73549261	NONHSAT003931
2	lnc-FPGT-9	chr1:73545439-73545634	ucscGeneNc_uc001dfx_2
3	lnc-FPGT-9	chr1:73544441-73544545	NONHSAT003927
4	lnc-FPGT-9	chr1:73545439-73545634	NONHSAT003927
5	lnc-FPGT-9	chr1:73544500-73544545	NONHSAT003928
6	lnc-FPGT-9	chr1:73545439-73545843	NONHSAT003930
7	lnc-FPGT-9	chr1:73549124-73549261	NONHSAT003928
8	lnc-FPGT-9	chr1:73549124-73549261	ucscGeneNc_uc001dfx_2
9	lnc-FPGT-9	chr1:73544505-73544545	NONHSAT003929
10	lnc-FPGT-9	chr1:73544510-73544545	NONHSAT003930
11	lnc-FPGT-9	chr1:73549124-73549261	NONHSAT003927
12	lnc-FPGT-9	chr1:73549124-73549261	NONHSAT003929
13	lnc-FPGT-9	chr1:73545487-73545634	NONHSAT003931
14	lnc-FPGT-9	chr1:73544441-73544545	ucscGeneNc_uc001dfx_2

No data

Extended variants
information (count: 189 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs6693460	chr1:73529275-73529276	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113497718	chr1:73529276-73529277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533044094	chr1:73529287-73529288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546648308	chr1:73529322-73529323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531411531	chr1:73529343-73529344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145795091	chr1:73529392-73529393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61773575	chr1:73529393-73529394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548824385	chr1:73529400-73529401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568566692	chr1:73529418-73529419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537626541	chr1:73529483-73529484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192422844	chr1:73529489-73529490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs181555555	chr1:73529565-73529566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570637097	chr1:73529616-73529617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138417415	chr1:73529629-73529630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552988251	chr1:73529667-73529668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186122434	chr1:73529674-73529675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190048478	chr1:73529676-73529677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555607728	chr1:73529752-73529753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182744551	chr1:73529753-73529754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575364348	chr1:73529769-73529770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370181060	chr1:73529779-73529780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs75855422	chr1:73529782-73529783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564251806	chr1:73529838-73529839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562120233	chr1:73529927-73529928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141595441	chr1:73529962-73529963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372626004	chr1:73529982-73529983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187737954	chr1:73530003-73530004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560201721	chr1:73530065-73530066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146218417	chr1:73530155-73530156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570282975	chr1:73530237-73530238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7526372	chr1:73530246-73530247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567149525	chr1:73530360-73530361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527921637	chr1:73530460-73530461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs562436408	chr1:73530508-73530509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549540076	chr1:73530554-73530555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567683122	chr1:73530555-73530556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537920135	chr1:73530576-73530577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556156705	chr1:73530577-73530578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190718753	chr1:73530679-73530680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550808146	chr1:73530780-73530781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564432883	chr1:73530787-73530788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs7552256	chr1:73530815-73530816	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs546641641	chr1:73530817-73530818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368384476	chr1:73530819-73530820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7529186	chr1:73530824-73530825	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147973847	chr1:73530829-73530830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575523825	chr1:73530858-73530859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538136891	chr1:73530863-73530864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558025405	chr1:73530870-73530871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577874032	chr1:73530878-73530879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73528400-73532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:73528600-73531400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:73530200-73531200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:73530200-73531400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:73530400-73532600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:73530800-73531600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:73531000-73531200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:73531000-73531200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr1:73531000-73531200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:73531000-73531200	Enhancers	Fetal Brain Female	brain
11	chr1:73531000-73531400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:73531000-73531800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:73531000-73532400	Enhancers	Fetal Lung	lung
14	chr1:73531000-73532800	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:73531000-73533600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:73531000-73534000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr1:73531200-73531400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr1:73531200-73531400	Enhancers	Brain Hippocampus Middle	brain
19	chr1:73531200-73531400	Enhancers	Colon Smooth Muscle	Colon
20	chr1:73531200-73531600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:73531200-73531600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:73531200-73531600	Enhancers	Brain Germinal Matrix	brain
23	chr1:73531200-73531600	Active TSS	Fetal Brain Male	brain
24	chr1:73531200-73531600	Enhancers	Fetal Stomach	stomach
25	chr1:73531200-73531600	Active TSS	Rectal Smooth Muscle	rectum
26	chr1:73531200-73531800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr1:73531200-73531800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:73531200-73531800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:73531200-73531800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr1:73531200-73532600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:73531400-73531600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:73531400-73531800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:73531400-73531800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:73531400-73532000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr1:73531400-73533600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr1:73531600-73531800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:73531600-73532000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:73531600-73532000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:73531600-73532200	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:73531600-73532600	Weak transcription	Fetal Stomach	stomach
41	chr1:73531800-73532400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:73531800-73532800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:73531800-73533000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:73531800-73533000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:73531800-73533000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:73531800-73533600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:73532000-73532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:73532000-73533000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:73532200-73532800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:73532600-73532800	Enhancers	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links