Variant report

Variant	esv2256908
Chromosome Location	chr10:44675057-44675503
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	chr10:44666585..44670486-chr10:44673567..44676746,4	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535755553	chr10:44675128-44675129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183638743	chr10:44675161-44675162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146108833	chr10:44675171-44675172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535660488	chr10:44675217-44675218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150383745	chr10:44675236-44675237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148770883	chr10:44675245-44675246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189018805	chr10:44675283-44675284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs386743251	chr10:44675319-44675320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374763824	chr10:44675322-44675323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543963630	chr10:44675324-44675325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77482834	chr10:44675325-44675326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115885922	chr10:44675425-44675426	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs541371894	chr10:44675437-44675438	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs142428033	chr10:44675456-44675457	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs533187763	chr10:44675458-44675459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551438691	chr10:44675468-44675469	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs180864528	chr10:44675500-44675501	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19214233	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:44667400-44675800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:44668600-44679600	Weak transcription	Left Ventricle	heart
3	chr10:44670400-44675600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr10:44670400-44682400	Weak transcription	Pancreas	Pancrea
5	chr10:44670600-44675400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:44672000-44675600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr10:44672600-44675400	Enhancers	NHDF-Ad	bronchial
8	chr10:44673800-44675200	Weak transcription	HSMMtube	muscle
9	chr10:44673800-44675400	Weak transcription	HepG2	liver
10	chr10:44674600-44677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:44674800-44676400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:44674800-44676400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:44675000-44676000	Enhancers	NHLF	lung
14	chr10:44675000-44676200	Enhancers	HSMM	muscle
15	chr10:44675200-44675400	Enhancers	HSMMtube	muscle
16	chr10:44675200-44676600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:44675200-44677200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:44675200-44677200	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr10:44675400-44675600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr10:44675400-44675800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:44675400-44675800	Enhancers	Placenta Amnion	Placenta Amnion
22	chr10:44675400-44675800	Flanking Active TSS	HSMMtube	muscle
23	chr10:44675400-44676000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
24	chr10:44675400-44676000	Enhancers	Fetal Muscle Trunk	muscle
25	chr10:44675400-44676000	Enhancers	HepG2	liver
26	chr10:44675400-44676000	Enhancers	Osteobl	bone
27	chr10:44675400-44676200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr10:44675400-44676200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr10:44675400-44676200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:44675400-44676200	Enhancers	Fetal Muscle Leg	muscle
31	chr10:44675400-44676400	Flanking Active TSS	NHDF-Ad	bronchial
32	chr10:44675400-44676600	Enhancers	NH-A	brain
33	chr10:44675400-44676800	Enhancers	Colon Smooth Muscle	Colon
34	chr10:44675400-44677000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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