Variant report

Variant	nsv1007535
Chromosome Location	chr1:73014642-73088158
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:0)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1183 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1183 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1664373	chr1:73014642-73014643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs563197525	chr1:73014664-73014665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531765512	chr1:73014665-73014666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145724402	chr1:73014712-73014713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541591778	chr1:73014804-73014805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540052768	chr1:73014826-73014827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571789570	chr1:73014868-73014869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534295448	chr1:73014896-73014897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190580289	chr1:73014917-73014918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536979851	chr1:73014933-73014934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373196313	chr1:73014934-73014935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182192163	chr1:73014937-73014938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74090031	chr1:73014952-73014953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs576286044	chr1:73015133-73015134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538413427	chr1:73015139-73015140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558706412	chr1:73015147-73015148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534180572	chr1:73015262-73015263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186863889	chr1:73015294-73015295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190011410	chr1:73015318-73015319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181124696	chr1:73015336-73015337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541114581	chr1:73015347-73015348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375497190	chr1:73015369-73015370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560983481	chr1:73015456-73015457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574460909	chr1:73015457-73015458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543446702	chr1:73015471-73015472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185437185	chr1:73015475-73015476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532024416	chr1:73015481-73015482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551832513	chr1:73015484-73015485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565454066	chr1:73015501-73015502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190296206	chr1:73015575-73015576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1418625	chr1:73015588-73015589	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs138663637	chr1:73015662-73015663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536195940	chr1:73015686-73015687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75335411	chr1:73015715-73015716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569989467	chr1:73015747-73015748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182123946	chr1:73015761-73015762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142861432	chr1:73015782-73015783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572174209	chr1:73015803-73015804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371966367	chr1:73015854-73015855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs72951163	chr1:73015886-73015887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs556437660	chr1:73015898-73015899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577400962	chr1:73015909-73015910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531178098	chr1:73015925-73015926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543584773	chr1:73015927-73015928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs72686612	chr1:73015936-73015937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192145809	chr1:73015958-73015959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545667236	chr1:73015981-73015982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565454624	chr1:73016045-73016046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199667157	chr1:73016076-73016077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs147435033	chr1:73016087-73016088	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:91 , 50 per page) page: 1 2

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	chr1:73013800-73014800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:73016600-73023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:73017400-73023200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:73019000-73023000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:73023000-73023400	Enhancers	Dnd41	blood
8	chr1:73023000-73023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:73023000-73023600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:73023000-73023600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:73023000-73023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:73023200-73023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:73023200-73023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:73023200-73023600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:73023400-73023600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr1:73023400-73023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:73023400-73023800	Flanking Active TSS	Dnd41	blood
18	chr1:73023600-73025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:73023800-73024000	Enhancers	Dnd41	blood
20	chr1:73025400-73026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:73025800-73026400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:73026400-73028400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:73028200-73028800	Enhancers	Fetal Heart	heart
24	chr1:73028400-73030800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:73028600-73028800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:73028800-73030600	Weak transcription	Fetal Heart	heart
27	chr1:73029000-73034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:73030600-73031000	Enhancers	Fetal Heart	heart
29	chr1:73030600-73031200	Enhancers	Left Ventricle	heart
30	chr1:73031000-73032800	Weak transcription	Fetal Heart	heart
31	chr1:73031200-73032400	Weak transcription	Left Ventricle	heart
32	chr1:73032200-73034200	Enhancers	Brain Germinal Matrix	brain
33	chr1:73032400-73033000	Enhancers	Left Ventricle	heart
34	chr1:73032800-73033400	Enhancers	Fetal Brain Male	brain
35	chr1:73032800-73033800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:73032800-73034200	Enhancers	Fetal Heart	heart
37	chr1:73032800-73034200	Enhancers	Fetal Lung	lung
38	chr1:73033200-73034200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:73033200-73034400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:73033400-73034000	Enhancers	Brain Cingulate Gyrus	brain
41	chr1:73033400-73034600	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:73033400-73034600	Enhancers	Dnd41	blood
43	chr1:73033600-73034400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:73033800-73034400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:73033800-73034400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:73033800-73034600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr1:73033800-73034600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:73034000-73034400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:73034000-73035000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr1:73034200-73036000	Weak transcription	Fetal Heart	heart

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