Variant report

Variant	esv3365814
Chromosome Location	chr10:562083-563066
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:481593..483760-chr10:562967..565503,2	MCF-7	breast:
2	chr10:561185..563586-chr10:574597..576241,2	MCF-7	breast:
3	chr10:561226..563645-chr10:565375..568269,2	K562	blood:
4	chr10:556490..559348-chr10:561200..563635,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233021	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139350444	chr10:562092-562093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574661369	chr10:562107-562108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533117424	chr10:562129-562130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560071093	chr10:562135-562136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577159499	chr10:562144-562145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371732111	chr10:562159-562160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562581228	chr10:562184-562185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376446750	chr10:562201-562202	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs192785252	chr10:562202-562203	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548231815	chr10:562205-562206	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs59732378	chr10:562279-562280	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183974124	chr10:562298-562299	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs202013200	chr10:562311-562312	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs112412409	chr10:562389-562390	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs200660175	chr10:562699-562700	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs200357014	chr10:562710-562711	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs113379863	chr10:562721-562722	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201496717	chr10:562771-562772	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs532076525	chr10:562773-562774	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201975041	chr10:562788-562789	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs11252902	chr10:562796-562797	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs560929651	chr10:562804-562805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10904398	chr10:562805-562806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186659133	chr10:562815-562816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540369698	chr10:562840-562841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149509363	chr10:562861-562862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111738473	chr10:562876-562877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184753494	chr10:562904-562905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572432099	chr10:563007-563008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533842167	chr10:563008-563009	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560175106	chr10:563021-563022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577075151	chr10:563042-563043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:545400-565000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr10:552600-567800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr10:553200-567000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr10:555600-564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:556000-564200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:557400-563000	Weak transcription	Ovary	ovary
7	chr10:557400-566000	Weak transcription	Placenta	Placenta
8	chr10:557600-565000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr10:557600-568000	Weak transcription	NHDF-Ad	bronchial
10	chr10:557600-572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:557600-577600	Weak transcription	NHLF	lung
12	chr10:557800-563200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:557800-565800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:557800-582200	Weak transcription	Osteobl	bone
15	chr10:558000-562800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:558000-563000	Weak transcription	HSMMtube	muscle
17	chr10:558000-565600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:558000-568000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:558200-562800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr10:558400-565200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr10:559000-564800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:559400-565000	Enhancers	Brain Angular Gyrus	brain
23	chr10:559400-566200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr10:559600-576000	Weak transcription	Spleen	Spleen
25	chr10:560200-562200	Enhancers	Brain Substantia Nigra	brain
26	chr10:560400-563000	Weak transcription	Fetal Stomach	stomach
27	chr10:560400-565200	Weak transcription	Fetal Intestine Large	intestine
28	chr10:560400-568400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr10:560400-571200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr10:560600-562200	Weak transcription	HSMM	muscle
31	chr10:560600-564000	Weak transcription	Fetal Intestine Small	intestine
32	chr10:560600-565600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:560600-567800	Weak transcription	Small Intestine	intestine
34	chr10:560800-562400	Enhancers	Brain Anterior Caudate	brain
35	chr10:560800-562400	Enhancers	Brain Hippocampus Middle	brain
36	chr10:560800-562800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:560800-562800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:560800-563000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr10:560800-563000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr10:560800-563000	Weak transcription	Fetal Brain Male	brain
41	chr10:560800-563000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr10:560800-563000	Weak transcription	Psoas Muscle	Psoas
43	chr10:560800-563000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:560800-563200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr10:560800-565000	Weak transcription	Gastric	stomach
46	chr10:560800-568400	Weak transcription	Esophagus	oesophagus
47	chr10:560800-571600	Weak transcription	Right Ventricle	heart
48	chr10:560800-572800	Weak transcription	Lung	lung
49	chr10:560800-575000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr10:561000-563200	Weak transcription	Brain Germinal Matrix	brain

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