Variant report

Variant	nsv871074
Chromosome Location	chr1:72987229-73100055
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:15)
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:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEGR1-4	chr1:73089021-73089071	NONHSAT003911
2	lnc-FPGT-12	chr1:73029336-73029551	NONHSAT003912
3	lnc-FPGT-12	chr1:73016544-73016628	NONHSAT003912
4	lnc-FPGT-12	chr1:73018378-73018564	NONHSAT003912
5	lnc-FPGT-12	chr1:73024898-73025252	NONHSAT003912
6	lnc-NEGR1-4	chr1:73003139-73003208	l_72_chr1:72935741-72937450_testes
7	lnc-FPGT-6	chr1:73023544-73023568	XLOC_000253
8	lnc-NEGR1-4	chr1:72987192-72987299	NONHSAT003911
9	lnc-NEGR1-4	chr1:72987437-72987547	NONHSAT003911
10	lnc-FPGT-12	chr1:73021941-73022154	NONHSAT003912
11	lnc-FPGT-12	chr1:73013542-73013815	NONHSAT003912
12	lnc-FPGT-6	chr1:73020893-73021081	XLOC_000253
13	lnc-FPGT-6	chr1:73023543-73023568	NONHSAT003913
14	lnc-FPGT-6	chr1:73020892-73021081	NONHSAT003913
15	lnc-NEGR1-4	chr1:72987437-72987547	l_72_chr1:72935741-72937450_testes

No data

Extended variants
information (count: 1816 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1816 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12060746	chr1:72987229-72987230	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79758887	chr1:72987247-72987248	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs190114031	chr1:72987275-72987276	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs578210626	chr1:72987284-72987285	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs540436878	chr1:72987293-72987294	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183097597	chr1:72987294-72987295	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs529362531	chr1:72987299-72987300	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs549496874	chr1:72987336-72987337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563014065	chr1:72987366-72987367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187689359	chr1:72987374-72987375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551780887	chr1:72987384-72987385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571423716	chr1:72987403-72987404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs782231	chr1:72987442-72987443	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547236007	chr1:72987450-72987451	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs192352998	chr1:72987522-72987523	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs539659542	chr1:72987550-72987551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536081447	chr1:72987556-72987557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555823923	chr1:72987557-72987558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567012547	chr1:72987563-72987564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs139404908	chr1:72987581-72987582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79732943	chr1:72987698-72987699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184642880	chr1:72987736-72987737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558536668	chr1:72987755-72987756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs5775132	chr1:72987766-72987767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs71074850	chr1:72987777-72987778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535775437	chr1:72987823-72987824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72949062	chr1:72987843-72987844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150063625	chr1:72987892-72987893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558215039	chr1:72987908-72987909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560814884	chr1:72987910-72987911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs782230	chr1:72987960-72987961	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375698591	chr1:72987996-72987997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372210809	chr1:72992296-72992297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144813846	chr1:72992324-72992325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74533385	chr1:72992325-72992326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377041234	chr1:72992326-72992327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111477796	chr1:72992327-72992328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568322372	chr1:72992338-72992339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531185349	chr1:72992351-72992352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371203704	chr1:72992353-72992354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs550789527	chr1:72992385-72992386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570960744	chr1:72992392-72992393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17543124	chr1:72992393-72992394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs553416182	chr1:72992399-72992400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566729974	chr1:72992414-72992415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117562047	chr1:72992450-72992451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555744820	chr1:72992468-72992469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577979784	chr1:72992481-72992482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs575500443	chr1:72992501-72992502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544427784	chr1:72992526-72992527	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	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:216 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72986800-72988000	Enhancers	Hela-S3	cervix
2	chr1:72987000-72987600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:72992200-72993200	Enhancers	NH-A	brain
4	chr1:72992800-72993200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr1:73011400-73014000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:73011800-73013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr1:73011800-73013800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:73011800-73014000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:73012000-73012200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:73012000-73012400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:73012000-73012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:73012200-73028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:73012400-73012800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:73012600-73013000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:73012600-73013000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr1:73012600-73013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:73012600-73013200	Enhancers	Fetal Lung	lung
18	chr1:73012600-73013400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:73012600-73013400	Enhancers	NHDF-Ad	bronchial
20	chr1:73012600-73013600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:73012600-73013600	Enhancers	Brain Substantia Nigra	brain
22	chr1:73012800-73013600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr1:73012800-73013600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:73013000-73013200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:73013000-73013400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr1:73013200-73013400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr1:73013200-73013600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr1:73013200-73013600	Enhancers	NHLF	lung
29	chr1:73013400-73013600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr1:73013400-73013800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:73013600-73014400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:73013600-73016200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:73013800-73014800	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr1:73016600-73023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:73017400-73023200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr1:73019000-73023000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:73023000-73023400	Enhancers	Dnd41	blood
38	chr1:73023000-73023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:73023000-73023600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr1:73023000-73023600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr1:73023000-73023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:73023200-73023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:73023200-73023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:73023200-73023600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr1:73023400-73023600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr1:73023400-73023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:73023400-73023800	Flanking Active TSS	Dnd41	blood
48	chr1:73023600-73025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:73023800-73024000	Enhancers	Dnd41	blood
50	chr1:73025400-73026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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