Variant report

Variant	esv10403
Chromosome Location	chr1:45021470-45022197
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	chr1:45020474..45024637-chr1:45033502..45037799,4	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138939192	chr1:45021562-45021563	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569018782	chr1:45021598-45021599	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12568345	chr1:45021601-45021602	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs270768	chr1:45021634-45021635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142820058	chr1:45021648-45021649	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371871626	chr1:45021657-45021658	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552742869	chr1:45021689-45021690	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs112913921	chr1:45021699-45021700	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35458434	chr1:45021824-45021825	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs398052956	chr1:45021828-45021829	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191242481	chr1:45021847-45021848	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs270767	chr1:45021852-45021853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs541869619	chr1:45021858-45021859	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533808972	chr1:45021898-45021899	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185002867	chr1:45021924-45021925	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7539938	chr1:45021925-45021926	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112748081	chr1:45021942-45021943	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564393499	chr1:45022038-45022039	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147089284	chr1:45022083-45022084	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs58875175	chr1:45022145-45022146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs111988665	chr1:45022146-45022147	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74711992	chr1:45022152-45022153	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549027400	chr1:45022165-45022166	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:44998800-45022000	Weak transcription	HepG2	liver
2	chr1:45011000-45032800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:45012000-45023200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:45012400-45023400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:45012800-45021600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:45012800-45023800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:45017800-45021800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:45017800-45023000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:45018000-45082600	Weak transcription	Right Atrium	heart
10	chr1:45019600-45023200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:45019800-45023200	Weak transcription	NH-A	brain
12	chr1:45020000-45023000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:45020200-45023200	Weak transcription	A549	lung
14	chr1:45020400-45023000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:45020400-45023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:45020400-45023200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:45020400-45023400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:45020600-45023200	Weak transcription	HSMMtube	muscle
19	chr1:45020600-45023400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr1:45020600-45023400	Weak transcription	HSMM	muscle
21	chr1:45020800-45023000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:45020800-45023400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:45020800-45023400	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:45021000-45021600	Enhancers	NHEK	skin
25	chr1:45021000-45021800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:45021000-45023200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:45021000-45023200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:45021000-45023600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:45021000-45024000	Weak transcription	Brain Anterior Caudate	brain
30	chr1:45021200-45021600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:45021200-45022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:45021200-45023000	Weak transcription	HMEC	breast
33	chr1:45021400-45021800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:45021400-45022200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:45021600-45022200	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:45021600-45022400	Weak transcription	NHEK	skin
37	chr1:45021600-45023800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:45021800-45022200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:45021800-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:45021800-45028200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:45022000-45022200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:45022000-45022400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:45022000-45022600	Enhancers	Monocytes-CD14+_RO01746	blood

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