Variant report

Variant	esv3431211
Chromosome Location	chr1:47915247-47915428
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47903024..47904874-chr1:47914470..47916409,2	K562	blood:
2	chr1:47915342..47916245-chr1:48175831..48176815,5	MCF-7	breast:
3	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:
4	chr1:47915304..47915981-chr1:48014901..48015680,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376200796	chr1:47915256-47915257	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs59366267	chr1:47915266-47915267	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs367808270	chr1:47915276-47915277	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576231411	chr1:47915291-47915292	Bivalent Enhancer Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs112736847	chr1:47915418-47915419	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556761579	chr1:47915419-47915420	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114362722	chr1:47915425-47915426	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Breast cancer	21509527	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47913000-47915600	Weak transcription	Pancreas	Pancrea
3	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
4	chr1:47913800-47916800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:47914600-47915600	Bivalent Enhancer	Fetal Lung	lung
6	chr1:47914800-47915800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:47915000-47915400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:47915000-47916000	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:47915000-47916200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
10	chr1:47915000-47916200	Bivalent Enhancer	Fetal Stomach	stomach
11	chr1:47915200-47915800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr1:47915200-47916000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr1:47915200-47917200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:47915400-47915600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr1:47915400-47915600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr1:47915400-47915600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:47915400-47915600	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:47915400-47915600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:47915400-47915600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
20	chr1:47915400-47915800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:47915400-47915800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr1:47915400-47915800	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr1:47915400-47915800	Enhancers	Liver	Liver
24	chr1:47915400-47915800	Bivalent Enhancer	Brain Germinal Matrix	brain
25	chr1:47915400-47916000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr1:47915400-47916000	Bivalent Enhancer	Fetal Intestine Small	intestine
27	chr1:47915400-47916200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr1:47915400-47916200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin

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