Variant report

Variant	esv3397696
Chromosome Location	chr1:67208052-67208577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67203426..67206890-chr1:67208390..67210914,3	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557889483	chr1:67208062-67208063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574856472	chr1:67208093-67208094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374032965	chr1:67208095-67208096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561669128	chr1:67208114-67208115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201258057	chr1:67208143-67208144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1280313	chr1:67208185-67208186	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs367660646	chr1:67208192-67208193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560028460	chr1:67208211-67208212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146763013	chr1:67208253-67208254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537515088	chr1:67208264-67208265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377648098	chr1:67208277-67208278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113265934	chr1:67208296-67208297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533777334	chr1:67208304-67208305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs12027227	chr1:67208316-67208317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529497124	chr1:67208328-67208329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553779321	chr1:67208340-67208341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573831527	chr1:67208353-67208354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536163837	chr1:67208395-67208396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556484668	chr1:67208411-67208412	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199996134	chr1:67208417-67208418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544411144	chr1:67208426-67208427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576526280	chr1:67208442-67208443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545494766	chr1:67208443-67208444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112188166	chr1:67208445-67208446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562707001	chr1:67208448-67208449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180820298	chr1:67208456-67208457	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541660433	chr1:67208490-67208491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561328013	chr1:67208548-67208549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187662914	chr1:67208564-67208565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Ewing''s sarcoma	17952124	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67157000-67208800	Weak transcription	Brain Germinal Matrix	brain
2	chr1:67188600-67217400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:67192000-67217200	Weak transcription	Brain Angular Gyrus	brain
4	chr1:67192000-67217400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:67192200-67208200	Weak transcription	Brain Substantia Nigra	brain
6	chr1:67196600-67212800	Weak transcription	Fetal Brain Female	brain
7	chr1:67197000-67217600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:67203000-67208600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:67205400-67217600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:67205600-67211600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:67205600-67217600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:67205800-67211800	Weak transcription	NHDF-Ad	bronchial
13	chr1:67205800-67217000	Weak transcription	NHLF	lung
14	chr1:67205800-67217400	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:67205800-67217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:67205800-67217800	Weak transcription	Aorta	Aorta
17	chr1:67206000-67210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:67206000-67211000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:67206000-67215600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:67206600-67210400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:67207400-67211800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67207400-67217400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:67207400-67217400	Weak transcription	Brain Anterior Caudate	brain
24	chr1:67208000-67212000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:67208000-67212000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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