Variant report

Variant	nsv871700
Chromosome Location	chr1:79325216-79350364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ELTD1-1	chr1:79346569-79346750	NONHSAT004083

Extended variants
information (count: 455 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:455 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549138203	chr1:79332439-79332440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567535068	chr1:79332486-79332487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74945800	chr1:79332494-79332495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs66927739	chr1:79332568-79332569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1973320	chr1:79332579-79332580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs370083576	chr1:79332581-79332582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376213095	chr1:79332583-79332584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374426375	chr1:79332584-79332585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71504613	chr1:79332585-79332586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3885836	chr1:79332592-79332593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3885835	chr1:79332594-79332595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61311265	chr1:79332595-79332596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115208816	chr1:79332596-79332597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115093512	chr1:79332599-79332600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150045176	chr1:79332601-79332602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575781053	chr1:79332629-79332630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553631305	chr1:79332678-79332679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369763374	chr1:79332736-79332737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141427707	chr1:79332752-79332753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561047548	chr1:79332769-79332770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573104899	chr1:79332837-79332838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540155528	chr1:79332838-79332839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113913878	chr1:79332900-79332901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386367411	chr1:79332901-79332902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374579788	chr1:79332902-79332903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1780763	chr1:79332935-79332936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs1780762	chr1:79332944-79332945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs116055028	chr1:79332949-79332950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150420850	chr1:79332959-79332960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138225382	chr1:79333014-79333015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547916122	chr1:79333033-79333034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1686339	chr1:79333040-79333041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs534933433	chr1:79333068-79333069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184751032	chr1:79333142-79333143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370585694	chr1:79333146-79333147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571864270	chr1:79333217-79333218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370391517	chr1:79333297-79333298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538986030	chr1:79333318-79333319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78265634	chr1:79333340-79333341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386632692	chr1:79333395-79333396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189612317	chr1:79333396-79333397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555150654	chr1:79333398-79333399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181619262	chr1:79333402-79333403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185361424	chr1:79333420-79333421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115364664	chr1:79333424-79333425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149285959	chr1:79333444-79333445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556655435	chr1:79333445-79333446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576776900	chr1:79333531-79333532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529669253	chr1:79333534-79333535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189440943	chr1:79333604-79333605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Ewing''s sarcoma	17952124	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
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79332400-79332600	Enhancers	Fetal Stomach	stomach
2	chr1:79332600-79336400	Weak transcription	Fetal Stomach	stomach
3	chr1:79334200-79335000	Enhancers	Fetal Lung	lung
4	chr1:79335000-79335400	Weak transcription	Fetal Lung	lung
5	chr1:79335400-79336200	Enhancers	Fetal Lung	lung
6	chr1:79336400-79336800	Enhancers	Fetal Stomach	stomach
7	chr1:79336800-79337400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:79336800-79337600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
9	chr1:79338200-79339200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:79338200-79339200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:79338200-79339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:79338800-79339200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:79346400-79350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:79346600-79350800	Weak transcription	HUVEC	blood vessel
15	chr1:79348400-79348600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:79348600-79405600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:79350200-79350400	Enhancers	Hela-S3	cervix
18	chr1:79350200-79350600	Enhancers	Colon Smooth Muscle	Colon
19	chr1:79350200-79351000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:79350200-79351000	Enhancers	Rectal Smooth Muscle	rectum
21	chr1:79350200-79351200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:79350200-79351200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr1:79350200-79351400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:79350200-79351400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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