Variant report

Variant	esv3395007
Chromosome Location	chr1:70126323-70126912
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	chr1:70121084..70123909-chr1:70126896..70129723,3	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369814803	chr1:70126353-70126354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572058463	chr1:70126371-70126372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531558958	chr1:70126455-70126456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116652946	chr1:70126496-70126497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572049752	chr1:70126545-70126546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs800930	chr1:70126607-70126608	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547042135	chr1:70126729-70126730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566939792	chr1:70126744-70126745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529642433	chr1:70126771-70126772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76891051	chr1:70126797-70126798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368664406	chr1:70126798-70126799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570250761	chr1:70126822-70126823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147503585	chr1:70126842-70126843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138568921	chr1:70126850-70126851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569697838	chr1:70126910-70126911	Enhancers 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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70124600-70126800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:70124800-70126400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:70124800-70127400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:70126000-70126400	Enhancers	Brain Angular Gyrus	brain
5	chr1:70126000-70126600	Enhancers	Brain Cingulate Gyrus	brain
6	chr1:70126000-70128200	Enhancers	Brain Hippocampus Middle	brain
7	chr1:70126000-70128800	Enhancers	Brain Anterior Caudate	brain
8	chr1:70126200-70126600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:70126400-70126600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:70126400-70126600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:70126400-70127200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:70126400-70127400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:70126600-70127000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:70126600-70127000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:70126600-70127600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:70126800-70128400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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