Variant report

Variant	esv3498507
Chromosome Location	chr10:50277818-50278389
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	chr10:50277084..50281077-chr10:50281316..50285114,4	MCF-7	breast:
2	chr10:50273046..50275272-chr10:50277935..50280006,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192310197	chr10:50277837-50277838	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117414772	chr10:50277856-50277857	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs140206233	chr10:50277878-50277879	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs568374905	chr10:50277915-50277916	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs529311201	chr10:50277934-50277935	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs75782964	chr10:50277961-50277962	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs566075385	chr10:50278015-50278016	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs539936018	chr10:50278053-50278054	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs558254233	chr10:50278073-50278074	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs374025364	chr10:50278079-50278080	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs55792044	chr10:50278094-50278095	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs58719664	chr10:50278113-50278114	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs555918481	chr10:50278121-50278122	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs60297698	chr10:50278150-50278151	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369496839	chr10:50278215-50278216	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs558183139	chr10:50278223-50278224	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112775537	chr10:50278317-50278318	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs4838363	chr10:50278332-50278333	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
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
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
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Schizophrenia	23813976	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Hypotonia	21948486	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50222800-50279000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr10:50232400-50279200	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:50243800-50278800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr10:50247000-50282600	Weak transcription	Brain Angular Gyrus	brain
5	chr10:50254400-50278800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:50266600-50289400	Weak transcription	Colonic Mucosa	Colon
7	chr10:50266800-50278600	Weak transcription	Colon Smooth Muscle	Colon
8	chr10:50267200-50288400	Weak transcription	NHLF	lung
9	chr10:50270600-50284200	Weak transcription	Fetal Intestine Large	intestine
10	chr10:50270800-50279600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr10:50271200-50279400	Weak transcription	Liver	Liver
12	chr10:50271600-50285200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr10:50272000-50278800	Weak transcription	HSMMtube	muscle
14	chr10:50272200-50279200	Weak transcription	Adipose Nuclei	Adipose
15	chr10:50272200-50279600	Weak transcription	Fetal Intestine Small	intestine
16	chr10:50272200-50283200	Weak transcription	Brain Anterior Caudate	brain
17	chr10:50272400-50279800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr10:50272400-50283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:50272600-50278600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:50272600-50279600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr10:50272600-50294200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:50273600-50279600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:50273600-50289800	Weak transcription	NHDF-Ad	bronchial
24	chr10:50273800-50278800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr10:50273800-50279000	Weak transcription	Aorta	Aorta
26	chr10:50274000-50279000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr10:50274200-50279800	Weak transcription	Fetal Lung	lung
28	chr10:50275600-50279200	Weak transcription	Fetal Brain Male	brain
29	chr10:50276200-50279000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:50276200-50280000	ZNF genes & repeats	Fetal Stomach	stomach
31	chr10:50276600-50288200	Weak transcription	Gastric	stomach
32	chr10:50276800-50278000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr10:50276800-50279800	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr10:50276800-50279800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr10:50277200-50281800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr10:50277400-50278000	Enhancers	Right Ventricle	heart
37	chr10:50277400-50278600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr10:50277400-50278800	Weak transcription	Esophagus	oesophagus
39	chr10:50277400-50280000	Enhancers	Ovary	ovary
40	chr10:50277400-50284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:50277600-50287200	Weak transcription	K562	blood
42	chr10:50277800-50278800	Weak transcription	Left Ventricle	heart
43	chr10:50277800-50278800	Weak transcription	Right Atrium	heart
44	chr10:50277800-50279400	Weak transcription	Lung	lung
45	chr10:50278000-50278200	Weak transcription	Right Ventricle	heart
46	chr10:50278000-50278400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr10:50278200-50279000	Genic enhancers	Right Ventricle	heart

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