Variant report

Variant	esv3346245
Chromosome Location	chr10:724755-725567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:723887..725590-chr10:731403..733656,2	MCF-7	breast:
2	chr10:712816..715288-chr10:723469..725023,2	MCF-7	breast:
3	chr10:717115..720273-chr10:724564..727281,3	MCF-7	breast:
4	chr10:721854..725155-chr10:733736..736400,3	MCF-7	breast:
5	chr10:656339..658937-chr10:722531..724771,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151240	chromatin interactions
ENSG00000272992	chromatin interactions

Extended variants
information (count: 110 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560819008	chr10:724756-724757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529736668	chr10:724757-724758	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12777383	chr10:724758-724759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370298896	chr10:724762-724763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs377552607	chr10:724777-724778	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs370142047	chr10:724788-724789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs547279351	chr10:724796-724797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs71494920	chr10:724807-724808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71494921	chr10:724811-724812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs202205190	chr10:724813-724814	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112978717	chr10:724835-724836	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs186062130	chr10:724850-724851	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs192092630	chr10:724852-724853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182309519	chr10:724856-724857	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186871933	chr10:724865-724866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs190720956	chr10:724867-724868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs559430361	chr10:724871-724872	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs71494922	chr10:724880-724881	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182912903	chr10:724882-724883	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs187199871	chr10:724886-724887	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs190054904	chr10:724894-724895	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs550069946	chr10:724895-724896	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569904182	chr10:724897-724898	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182733317	chr10:724908-724909	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs187810801	chr10:724914-724915	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs193128034	chr10:724916-724917	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs185776624	chr10:724919-724920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560656189	chr10:724924-724925	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs187621133	chr10:724926-724927	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192144679	chr10:724927-724928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs78414318	chr10:724937-724938	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184185142	chr10:724947-724948	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188739014	chr10:724959-724960	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181155506	chr10:724964-724965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs537336204	chr10:724965-724966	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs184482687	chr10:724973-724974	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs76721983	chr10:724974-724975	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs573861556	chr10:724976-724977	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs189358716	chr10:724989-724990	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs180753601	chr10:724991-724992	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs187462728	chr10:724992-724993	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs189305929	chr10:724995-724996	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs181605136	chr10:724997-724998	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs371243269	chr10:725036-725037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs374530967	chr10:725055-725056	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368910133	chr10:725059-725060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs371630367	chr10:725068-725069	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs186078482	chr10:725076-725077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs532719343	chr10:725080-725081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs552543575	chr10:725081-725082	Weak transcription	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:712200-725600	Weak transcription	Fetal Intestine Small	intestine
2	chr10:712800-726000	Weak transcription	Fetal Stomach	stomach
3	chr10:713400-728800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr10:716200-725600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:716200-725800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr10:716400-725600	Weak transcription	Fetal Heart	heart
7	chr10:716400-726400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:716400-729200	Weak transcription	Fetal Lung	lung
9	chr10:716400-732200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:716400-734200	Weak transcription	Fetal Kidney	kidney
11	chr10:718400-725600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:719600-725600	Weak transcription	Fetal Brain Male	brain
13	chr10:719800-725600	Weak transcription	Ovary	ovary
14	chr10:719800-725600	Weak transcription	Right Atrium	heart
15	chr10:719800-725800	Weak transcription	Adipose Nuclei	Adipose
16	chr10:719800-726000	Weak transcription	Brain Germinal Matrix	brain
17	chr10:722000-726000	Weak transcription	HSMM	muscle
18	chr10:722600-727200	Weak transcription	NHLF	lung
19	chr10:723000-724800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr10:723000-725000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr10:723400-727400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:723600-727600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:723800-724800	Enhancers	Esophagus	oesophagus
24	chr10:723800-724800	Enhancers	Gastric	stomach
25	chr10:723800-727400	Weak transcription	Osteobl	bone
26	chr10:724000-725000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr10:724000-725600	Weak transcription	Brain Angular Gyrus	brain
28	chr10:724000-725600	Weak transcription	HSMMtube	muscle
29	chr10:724000-726400	Weak transcription	NHDF-Ad	bronchial
30	chr10:724000-727200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:724000-727800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr10:724200-725600	Weak transcription	Psoas Muscle	Psoas
33	chr10:724200-725800	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:724200-734000	Weak transcription	Colonic Mucosa	Colon
35	chr10:724400-725600	Weak transcription	Colon Smooth Muscle	Colon
36	chr10:724400-725600	Weak transcription	Fetal Muscle Leg	muscle
37	chr10:724400-726000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:724600-725400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:724600-725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr10:724600-725600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:724600-725600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:724600-725600	Weak transcription	Brain Anterior Caudate	brain
43	chr10:724600-725600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr10:724600-725600	Weak transcription	Brain Hippocampus Middle	brain
45	chr10:724600-725600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr10:724600-725600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr10:724600-725600	Weak transcription	Brain Substantia Nigra	brain
48	chr10:724600-725600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr10:724600-725600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr10:724600-725600	Weak transcription	Left Ventricle	heart

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