Variant report

Variant	esv3453319
Chromosome Location	chr1:69996377-70002707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70001323..70007506-chr1:70017692..70021149,7	K562	blood:
2	chr1:69995565..69997784-chr1:70003938..70005840,2	K562	blood:
3	chr1:69990471..69992638-chr1:70002078..70005034,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77996557	chr1:69996518-69996519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538878969	chr1:69996553-69996554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191734011	chr1:69996573-69996574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571875614	chr1:69996582-69996583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs145862435	chr1:69996615-69996616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11209488	chr1:69996616-69996617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs182173633	chr1:69996795-69996796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187211997	chr1:69996818-69996819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557774865	chr1:69996824-69996825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs553060388	chr1:69996831-69996832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12402852	chr1:69996856-69996857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149045739	chr1:69996882-69996883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574605095	chr1:69996894-69996895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541875690	chr1:69996958-69996959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143017165	chr1:69997006-69997007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147807619	chr1:69997025-69997026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190786624	chr1:69997279-69997280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182344414	chr1:69997305-69997306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147643240	chr1:69997308-69997309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200317609	chr1:69997311-69997312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548782224	chr1:69997323-69997324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368476557	chr1:69997434-69997435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562203609	chr1:69997462-69997463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567262287	chr1:69997468-69997469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550702184	chr1:69997485-69997486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570783472	chr1:69997517-69997518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12045969	chr1:69997518-69997519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552421468	chr1:69997541-69997542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34975422	chr1:69997602-69997603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373669634	chr1:69997660-69997661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141197658	chr1:69997703-69997704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186619792	chr1:69997710-69997711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs72934441	chr1:69997726-69997727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs190235584	chr1:69997732-69997733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146983725	chr1:69997771-69997772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1891220	chr1:69997867-69997868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs545457870	chr1:69997893-69997894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138071024	chr1:69997917-69997918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573566970	chr1:69997935-69997936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577863050	chr1:69997965-69997966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535826263	chr1:69998013-69998014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542487315	chr1:69998014-69998015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562216191	chr1:69998025-69998026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141728724	chr1:69998054-69998055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528893392	chr1:69998341-69998342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544936156	chr1:69998354-69998355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551019901	chr1:69998422-69998423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550735706	chr1:69998438-69998439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533392895	chr1:69998449-69998450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112007292	chr1:69998486-69998487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:69994800-69997800	Weak transcription	K562	blood
2	chr1:69995000-69998800	Weak transcription	NHEK	skin
3	chr1:69997800-69998000	Enhancers	K562	blood
4	chr1:69998800-69999400	Enhancers	NHEK	skin
5	chr1:70000400-70001400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:70000800-70001400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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