Variant report

Variant	nsv871131
Chromosome Location	chr1:69323222-69427276
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC7-7	chr1:69323451-69323569	NONHSAT003828
2	lnc-LRRC7-7	chr1:69326786-69326833	NONHSAT003828
3	lnc-LRRC7-7	chr1:69423057-69423274	NONHSAT003828
4	lnc-LRRC7-7	chr1:69421041-69421132	NONHSAT003828

Extended variants
information (count: 1888 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1888 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7414744	chr1:69323222-69323223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536789712	chr1:69323227-69323228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35361372	chr1:69323234-69323235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562362850	chr1:69323271-69323272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1079998	chr1:69323294-69323295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544564451	chr1:69323319-69323320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192320270	chr1:69323320-69323321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554783699	chr1:69323364-69323365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1907651	chr1:69323507-69323508	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs79646163	chr1:69323520-69323521	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs559128003	chr1:69323547-69323548	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs372247821	chr1:69323551-69323552	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs12067729	chr1:69323585-69323586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543670991	chr1:69323586-69323587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138399014	chr1:69323629-69323630	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187232026	chr1:69323630-69323631	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536676732	chr1:69323644-69323645	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs192091196	chr1:69323678-69323679	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146814353	chr1:69323683-69323684	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184636167	chr1:69323718-69323719	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374831526	chr1:69323755-69323756	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190351450	chr1:69323787-69323788	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567079277	chr1:69323819-69323820	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536010560	chr1:69323885-69323886	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555805050	chr1:69323906-69323907	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575870065	chr1:69323925-69323926	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115231742	chr1:69323928-69323929	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557728897	chr1:69323933-69323934	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577571055	chr1:69323954-69323955	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540341139	chr1:69323982-69323983	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115809059	chr1:69323998-69323999	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541004249	chr1:69324024-69324025	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528293495	chr1:69324026-69324027	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147390039	chr1:69324058-69324059	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7533432	chr1:69324066-69324067	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs115331228	chr1:69324068-69324069	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7547421	chr1:69324112-69324113	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570464957	chr1:69324163-69324164	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116299956	chr1:69324164-69324165	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138013085	chr1:69324183-69324184	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566542538	chr1:69324227-69324228	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143584035	chr1:69324230-69324231	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555911197	chr1:69324253-69324254	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78707056	chr1:69324369-69324370	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111854565	chr1:69324370-69324371	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193214013	chr1:69324393-69324394	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372996639	chr1:69324397-69324398	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7536056	chr1:69324415-69324416	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540205837	chr1:69324419-69324420	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185568181	chr1:69324432-69324433	Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Malignant fibrous histiocytomas	21085701	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
Esophageal cancer	21851588	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Retinoblastoma	21504564	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69322000-69323600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:69323600-69324800	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:69324800-69327000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:69330000-69330400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:69346800-69347000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:69347000-69347400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:69347000-69347600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:69347000-69347800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:69347000-69347800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:69347000-69347800	Active TSS	Placenta	Placenta
11	chr1:69347000-69348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr1:69347000-69348200	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:69347000-69348200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr1:69347000-69348600	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:69347000-69348800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:69347200-69347600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:69347200-69347800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:69347200-69348000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr1:69347200-69348000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr1:69347400-69347800	Active TSS	A549	lung
21	chr1:69347400-69349000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:69347600-69348000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:69347800-69348000	Enhancers	Placenta	Placenta
24	chr1:69348000-69348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:69348200-69348400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr1:69348600-69349000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:69354600-69355200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:69355200-69355400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:69356600-69356800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:69356800-69357800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:69358000-69358200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:69365800-69366600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:69366600-69369200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:69369200-69371000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:69369600-69371000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:69369800-69371000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:69370000-69370800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr1:69370200-69370800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr1:69373400-69373600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr1:69374200-69374400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr1:69375400-69376000	ZNF genes & repeats	Aorta	Aorta
42	chr1:69376000-69383000	Weak transcription	Aorta	Aorta
43	chr1:69379800-69383400	Enhancers	Fetal Heart	heart
44	chr1:69380400-69382200	Enhancers	Ovary	ovary
45	chr1:69380600-69383200	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr1:69381200-69382600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:69381200-69382600	Enhancers	Fetal Brain Male	brain
48	chr1:69381200-69384600	Enhancers	Stomach Mucosa	stomach
49	chr1:69381200-69384800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr1:69381200-69385600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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