Variant report

Variant	nsv1005909
Chromosome Location	chr1:71028151-71049347
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:71038517..71040691-chr1:71042020..71043819,2	K562	blood:
2	chr1:71033867..71036861-chr1:71040910..71043155,2	K562	blood:
3	chr1:71044853..71046910-chr1:71048010..71049941,2	K562	blood:
4	chr1:71037643..71040691-chr1:71042020..71043916,3	K562	blood:
5	chr1:71044853..71046910-chr1:71048010..71049941,2	K562	blood:
6	chr1:71037643..71040691-chr1:71042020..71043916,3	K562	blood:
7	chr1:71032636..71034814-chr1:71507461..71509971,2	K562	blood:
8	chr1:71023172..71026048-chr1:71028413..71030523,2	K562	blood:
9	chr1:71033867..71036861-chr1:71040910..71043155,2	K562	blood:
10	chr1:71038517..71040691-chr1:71042020..71043819,2	K562	blood:

No data

Extended variants
information (count: 735 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4649923	chr1:71028151-71028152	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11209638	chr1:71028199-71028200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs531337268	chr1:71028203-71028204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551357223	chr1:71028210-71028211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571408911	chr1:71028236-71028237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570887650	chr1:71028338-71028339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547644033	chr1:71028360-71028361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139218432	chr1:71028399-71028400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146984767	chr1:71028410-71028411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4649924	chr1:71028423-71028424	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549831634	chr1:71028427-71028428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569900668	chr1:71028435-71028436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191274977	chr1:71028462-71028463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111823591	chr1:71028513-71028514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4649925	chr1:71028542-71028543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4650067	chr1:71028551-71028552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4649926	chr1:71028571-71028572	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs574154869	chr1:71028589-71028590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11209639	chr1:71028610-71028611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4649927	chr1:71028619-71028620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576792072	chr1:71028622-71028623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561887529	chr1:71028627-71028628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184224135	chr1:71028631-71028632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138029411	chr1:71028674-71028675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189721304	chr1:71028719-71028720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547182096	chr1:71028748-71028749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561012546	chr1:71028788-71028789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115615018	chr1:71028794-71028795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3121983	chr1:71028815-71028816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs11809364	chr1:71028836-71028837	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs61776725	chr1:71028857-71028858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143174506	chr1:71028879-71028880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551403461	chr1:71028928-71028929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571317342	chr1:71028975-71028976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533886525	chr1:71028976-71028977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553995032	chr1:71028989-71028990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574043980	chr1:71029002-71029003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12085784	chr1:71029019-71029020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs185415361	chr1:71029026-71029027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576852476	chr1:71029070-71029071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545703537	chr1:71029124-71029125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565534054	chr1:71029152-71029153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189944530	chr1:71029154-71029155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540990336	chr1:71029157-71029158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371710979	chr1:71029161-71029162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182026028	chr1:71029175-71029176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35958732	chr1:71029192-71029193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529776030	chr1:71029203-71029204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549758138	chr1:71029238-71029239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374262810	chr1:71029259-71029260	Weak transcription	n/a	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
small cell lung cancer	20016488	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
Esophageal cancer	21851588	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:71012600-71059800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:71032200-71032600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:71043600-71044000	Enhancers	K562	blood
4	chr1:71044800-71045000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:71045000-71054400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:71045600-71046000	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:71047600-71048000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:71048000-71051800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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