Variant report

Variant	esv1842679
Chromosome Location	chr1:70279860-70306245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70286905..70288667-chr1:70301183..70303525,2	K562	blood:
2	chr1:70286905..70288667-chr1:70301183..70303525,2	K562	blood:
3	chr1:70283782..70286242-chr1:70286706..70289551,2	K562	blood:
4	chr1:70283782..70286242-chr1:70286706..70289551,2	K562	blood:

Extended variants
information (count: 621 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547581254	chr1:70280653-70280654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567476550	chr1:70280686-70280687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61784015	chr1:70280698-70280699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576136350	chr1:70280701-70280702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150855808	chr1:70280727-70280728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576297665	chr1:70280728-70280729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139325215	chr1:70280752-70280753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182824095	chr1:70280830-70280831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371909224	chr1:70280901-70280902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112247428	chr1:70280902-70280903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543436786	chr1:70280955-70280956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs575364039	chr1:70287261-70287262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147925230	chr1:70287275-70287276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140218680	chr1:70287284-70287285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183947447	chr1:70287297-70287298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574155911	chr1:70287315-70287316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150060336	chr1:70287324-70287325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190106272	chr1:70287335-70287336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs145482653	chr1:70287341-70287342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542817398	chr1:70287346-70287347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543284437	chr1:70287347-70287348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148813684	chr1:70287359-70287360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12566838	chr1:70287402-70287403	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs533605817	chr1:70287407-70287408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551566719	chr1:70287411-70287412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181777553	chr1:70287413-70287414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112904810	chr1:70287458-70287459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554025307	chr1:70287484-70287485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141025606	chr1:70287526-70287527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187270168	chr1:70287564-70287565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555515162	chr1:70287569-70287570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574022773	chr1:70287576-70287577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367975148	chr1:70287586-70287587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575301371	chr1:70287706-70287707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544323776	chr1:70287732-70287733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547463297	chr1:70287738-70287739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12064373	chr1:70287742-70287743	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs577823826	chr1:70287744-70287745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192175082	chr1:70287794-70287795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530168225	chr1:70287816-70287817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560834514	chr1:70287836-70287837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529587868	chr1:70287845-70287846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532782376	chr1:70287847-70287848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542591244	chr1:70287881-70287882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78937940	chr1:70287889-70287890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531404894	chr1:70287961-70287962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144816446	chr1:70287980-70287981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571408630	chr1:70288024-70288025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180880853	chr1:70288031-70288032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547307520	chr1:70288039-70288040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70280600-70281000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:70287200-70290200	Weak transcription	Brain Germinal Matrix	brain
3	chr1:70288000-70293600	Weak transcription	Psoas Muscle	Psoas
4	chr1:70289600-70291000	Enhancers	Fetal Brain Female	brain
5	chr1:70290000-70291000	Enhancers	Fetal Brain Male	brain
6	chr1:70290200-70290800	Enhancers	Brain Anterior Caudate	brain
7	chr1:70290200-70290800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:70290200-70291000	Enhancers	Brain Germinal Matrix	brain
9	chr1:70290200-70291000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:70290200-70291000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:70290400-70290800	Enhancers	Brain Cingulate Gyrus	brain
12	chr1:70290400-70291000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:70290400-70291000	Enhancers	Brain Hippocampus Middle	brain
14	chr1:70291000-70296800	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:70291000-70301400	Weak transcription	Fetal Brain Female	brain
16	chr1:70291000-70302200	Weak transcription	Brain Germinal Matrix	brain
17	chr1:70291000-70302800	Weak transcription	Fetal Brain Male	brain
18	chr1:70297800-70298000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:70298000-70312200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:70299200-70300200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr1:70300200-70301600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:70301200-70303200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:70301400-70302200	Enhancers	Fetal Brain Female	brain
24	chr1:70301600-70303200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:70301600-70303400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:70301800-70302200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr1:70301800-70303200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr1:70301800-70303200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:70302200-70302400	Weak transcription	Fetal Brain Female	brain
30	chr1:70302200-70302600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:70302400-70303200	Enhancers	Fetal Brain Female	brain
32	chr1:70302600-70303200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr1:70302800-70303200	Enhancers	Fetal Brain Male	brain
34	chr1:70303200-70311600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:70303200-70313200	Weak transcription	Fetal Brain Female	brain

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