Variant report

Variant	nsv546178
Chromosome Location	chr1:47882528-47883019
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	chr1:47873301..47878358-chr1:47879948..47882876,5	K562	blood:
2	chr1:47882103..47884059-chr1:47889283..47891446,2	K562	blood:

Variant related genes	Relation type
ENSG00000225762	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs281865461	chr1:47882574-47882575	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530072475	chr1:47882588-47882589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189628587	chr1:47882605-47882606	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560327746	chr1:47882606-47882607	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112802909	chr1:47882690-47882691	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs80358194	chr1:47882707-47882708	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs12724260	chr1:47882761-47882762	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs527783871	chr1:47882818-47882819	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12724403	chr1:47882845-47882846	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12724404	chr1:47882846-47882847	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552420470	chr1:47882885-47882886	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571095192	chr1:47882916-47882917	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538463445	chr1:47882926-47882927	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs387906793	chr1:47882946-47882947	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550433635	chr1:47883016-47883017	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386630974	chr1:47883019-47883020	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
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
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
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
Muscle-eye-brain disease	21572526	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Neuroblastoma	21899760	CNVD
Uveal melanoma	20484589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Glioblastoma	20031968	CNVD
Leukemia	18688285	CNVD
Rett syndrome	21593744	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Meckel-Gruber syndrome	21572526	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47881000-47884800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:47881400-47883400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr1:47881600-47882600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:47881600-47882600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr1:47881800-47882800	Bivalent/Poised TSS	Colonic Mucosa	Colon
6	chr1:47881800-47882800	Enhancers	Gastric	stomach
7	chr1:47881800-47882800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr1:47881800-47883000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
9	chr1:47881800-47883000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:47881800-47883200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:47881800-47883200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:47881800-47883200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:47882000-47882800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:47882000-47882800	Active TSS	HSMM	muscle
15	chr1:47882000-47883000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:47882000-47883000	Bivalent/Poised TSS	Psoas Muscle	Psoas
17	chr1:47882000-47883000	Bivalent/Poised TSS	Right Ventricle	heart
18	chr1:47882200-47882600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:47882200-47882600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:47882200-47882600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:47882200-47882600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:47882200-47882600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
23	chr1:47882200-47882600	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr1:47882200-47882600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr1:47882200-47882600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:47882200-47882600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:47882200-47882600	Bivalent Enhancer	Liver	Liver
28	chr1:47882200-47882600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr1:47882200-47882600	Bivalent Enhancer	Fetal Brain Male	brain
30	chr1:47882200-47882600	Bivalent/Poised TSS	Fetal Brain Female	brain
31	chr1:47882200-47882600	Bivalent/Poised TSS	Ovary	ovary
32	chr1:47882200-47882600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr1:47882200-47882600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
34	chr1:47882200-47882600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr1:47882200-47882600	Enhancers	Spleen	Spleen
36	chr1:47882200-47882600	Flanking Bivalent TSS/Enh	HMEC	breast
37	chr1:47882200-47882600	Bivalent/Poised TSS	HSMMtube	muscle
38	chr1:47882200-47882600	Bivalent/Poised TSS	Osteobl	bone
39	chr1:47882200-47882800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
40	chr1:47882200-47882800	Bivalent Enhancer	Left Ventricle	heart
41	chr1:47882200-47882800	Flanking Active TSS	Pancreas	Pancrea
42	chr1:47882200-47882800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
43	chr1:47882200-47882800	Flanking Active TSS	Right Atrium	heart
44	chr1:47882200-47883000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:47882200-47883000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:47882200-47883000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:47882200-47883000	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:47882200-47883000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
49	chr1:47882400-47882600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:47882400-47882600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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