Variant report

Variant	nsv997766
Chromosome Location	chr1:73012604-73088158
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:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FPGT-6	chr1:73020892-73021081	NONHSAT003913
2	lnc-FPGT-6	chr1:73023544-73023568	XLOC_000253
3	lnc-FPGT-12	chr1:73016544-73016628	NONHSAT003912
4	lnc-FPGT-12	chr1:73024898-73025252	NONHSAT003912
5	lnc-FPGT-12	chr1:73018378-73018564	NONHSAT003912
6	lnc-FPGT-6	chr1:73023543-73023568	NONHSAT003913
7	lnc-FPGT-12	chr1:73029336-73029551	NONHSAT003912
8	lnc-FPGT-12	chr1:73021941-73022154	NONHSAT003912
9	lnc-FPGT-6	chr1:73020893-73021081	XLOC_000253
10	lnc-FPGT-12	chr1:73013542-73013815	NONHSAT003912

No data

Extended variants
information (count: 1275 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1275 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2797093	chr1:73012604-73012605	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184892967	chr1:73012610-73012611	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs189752337	chr1:73012618-73012619	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373811871	chr1:73012620-73012621	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs575673572	chr1:73012635-73012636	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147392393	chr1:73012637-73012638	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs540663259	chr1:73012642-73012643	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs533068698	chr1:73012671-73012672	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs546924026	chr1:73012683-73012684	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs560071095	chr1:73012689-73012690	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs529088352	chr1:73012703-73012704	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs548634507	chr1:73012728-73012729	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs568634684	chr1:73012748-73012749	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs537403667	chr1:73012768-73012769	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74602832	chr1:73012769-73012770	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs386632340	chr1:73012777-73012778	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182337780	chr1:73012779-73012780	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs553657480	chr1:73012882-73012883	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs17092934	chr1:73012910-73012911	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187752071	chr1:73012928-73012929	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs373850362	chr1:73012934-73012935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs377052268	chr1:73012958-73012959	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs371176401	chr1:73012983-73012984	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs139157815	chr1:73013007-73013008	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs193126392	chr1:73013014-73013015	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs76221426	chr1:73013018-73013019	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs183594522	chr1:73013090-73013091	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs111655613	chr1:73013096-73013097	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs145238358	chr1:73013126-73013127	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs577993999	chr1:73013127-73013128	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs148750757	chr1:73013154-73013155	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs142269860	chr1:73013156-73013157	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79004533	chr1:73013168-73013169	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs7417173	chr1:73013187-73013188	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs140693859	chr1:73013200-73013201	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs112438681	chr1:73013211-73013212	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs551501163	chr1:73013241-73013242	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs188434058	chr1:73013242-73013243	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs577859188	chr1:73013247-73013248	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs1664376	chr1:73013282-73013283	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs115530194	chr1:73013322-73013323	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs536005287	chr1:73013326-73013327	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs192856808	chr1:73013365-73013366	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs569520399	chr1:73013373-73013374	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs369575474	chr1:73013461-73013462	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs537934517	chr1:73013554-73013555	Weak transcription Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs558268177	chr1:73013609-73013610	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs79965353	chr1:73013611-73013612	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs568264777	chr1:73013658-73013659	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs540644309	chr1:73013682-73013683	Weak transcription Enhancers	lncRNA	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:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:73011400-73014000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:73011800-73013000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr1:73011800-73013800	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:73011800-73014000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:73012000-73012800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:73012200-73028200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:73012400-73012800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:73012600-73013000	Enhancers	H9 Cell Line	embryonic stem cell
9	chr1:73012600-73013000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:73012600-73013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:73012600-73013200	Enhancers	Fetal Lung	lung
12	chr1:73012600-73013400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:73012600-73013400	Enhancers	NHDF-Ad	bronchial
14	chr1:73012600-73013600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:73012600-73013600	Enhancers	Brain Substantia Nigra	brain
16	chr1:73012800-73013600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:73012800-73013600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:73013000-73013200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr1:73013000-73013400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr1:73013200-73013400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr1:73013200-73013600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr1:73013200-73013600	Enhancers	NHLF	lung
23	chr1:73013400-73013600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:73013400-73013800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:73013600-73014400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:73013600-73016200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:73013800-73014800	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:73016600-73023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr1:73017400-73023200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr1:73019000-73023000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:73023000-73023400	Enhancers	Dnd41	blood
32	chr1:73023000-73023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr1:73023000-73023600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:73023000-73023600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:73023000-73023600	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:73023200-73023600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:73023200-73023600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:73023200-73023600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr1:73023400-73023600	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:73023400-73023600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:73023400-73023800	Flanking Active TSS	Dnd41	blood
42	chr1:73023600-73025400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:73023800-73024000	Enhancers	Dnd41	blood
44	chr1:73025400-73026000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:73025800-73026400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:73026400-73028400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:73028200-73028800	Enhancers	Fetal Heart	heart
48	chr1:73028400-73030800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:73028600-73028800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:73028800-73030600	Weak transcription	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links