Variant report

Variant	nsv998900
Chromosome Location	chr1:79319633-79346059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 355 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7414397	chr1:79319800-79319801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571866746	chr1:79319821-79319822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190795292	chr1:79319824-79319825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77614978	chr1:79319869-79319870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547734855	chr1:79319919-79319920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565962604	chr1:79319920-79319921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183135203	chr1:79319928-79319929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187816578	chr1:79319953-79319954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145740544	chr1:79319954-79319955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529269260	chr1:79319970-79319971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79512442	chr1:79319992-79319993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555222849	chr1:79320004-79320005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573915794	chr1:79320027-79320028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148535112	chr1:79320031-79320032	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192170601	chr1:79320032-79320033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552883676	chr1:79320036-79320037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115923352	chr1:79320108-79320109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545114132	chr1:79320126-79320127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184484391	chr1:79320149-79320150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs531919034	chr1:79320189-79320190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544062866	chr1:79320230-79320231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562159149	chr1:79320286-79320287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529563345	chr1:79320308-79320309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111861618	chr1:79320321-79320322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187964825	chr1:79320334-79320335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143373250	chr1:79320335-79320336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs12032722	chr1:79320341-79320342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551459090	chr1:79320348-79320349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569844229	chr1:79320349-79320350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs536834808	chr1:79320350-79320351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555505715	chr1:79320360-79320361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548997280	chr1:79320386-79320387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs146738044	chr1:79320393-79320394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199779164	chr1:79320400-79320401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs565563576	chr1:79320406-79320407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1248483	chr1:79320447-79320448	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545048122	chr1:79320478-79320479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140386842	chr1:79320516-79320517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201696059	chr1:79320532-79320533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145589348	chr1:79320543-79320544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542765691	chr1:79320546-79320547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151015479	chr1:79320547-79320548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529474543	chr1:79320548-79320549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541702404	chr1:79320564-79320565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115293405	chr1:79320574-79320575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540211676	chr1:79320620-79320621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs192994699	chr1:79320697-79320698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560211736	chr1:79320712-79320713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs367827060	chr1:79320715-79320716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189181710	chr1:79320731-79320732	Enhancers	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79319800-79321200	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr1:79320600-79321400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:79320600-79321400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:79320800-79321400	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:79332400-79332600	Enhancers	Fetal Stomach	stomach
6	chr1:79332600-79336400	Weak transcription	Fetal Stomach	stomach
7	chr1:79334200-79335000	Enhancers	Fetal Lung	lung
8	chr1:79335000-79335400	Weak transcription	Fetal Lung	lung
9	chr1:79335400-79336200	Enhancers	Fetal Lung	lung
10	chr1:79336400-79336800	Enhancers	Fetal Stomach	stomach
11	chr1:79336800-79337400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:79336800-79337600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr1:79338200-79339200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:79338200-79339200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:79338200-79339200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:79338800-79339200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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