Variant report

Variant	esv3386953
Chromosome Location	chr10:25260934-25261466
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	chr10:25258984..25265341-chr10:25266551..25271124,6	MCF-7	breast:
2	chr10:25241659..25243537-chr10:25257631..25261470,3	K562	blood:

Variant related genes	Relation type
ENSG00000273107	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558762096	chr10:25260934-25260935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184322937	chr10:25260982-25260983	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9663998	chr10:25260994-25260995	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189482902	chr10:25261002-25261003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560079511	chr10:25261027-25261028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs532465178	chr10:25261071-25261072	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552173192	chr10:25261104-25261105	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569099359	chr10:25261127-25261128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs114263402	chr10:25261145-25261146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs181765278	chr10:25261161-25261162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs77199093	chr10:25261173-25261174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs567773404	chr10:25261175-25261176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs536737160	chr10:25261212-25261213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs184991706	chr10:25261267-25261268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs566926600	chr10:25261272-25261273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201675405	chr10:25261299-25261300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs539351273	chr10:25261301-25261302	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs188928845	chr10:25261305-25261306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374557414	chr10:25261362-25261363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs80227544	chr10:25261436-25261437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558859227	chr10:25261437-25261438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs274290	chr10:25261446-25261447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs202107564	chr10:25261450-25261451	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs59707614	chr10:25261451-25261452	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
Breast cancer	17133270	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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25249200-25262200	Weak transcription	Fetal Stomach	stomach
2	chr10:25249200-25263800	Weak transcription	Ovary	ovary
3	chr10:25251000-25263800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:25253200-25262000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr10:25253200-25264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr10:25256400-25264400	Weak transcription	Gastric	stomach
7	chr10:25259000-25263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr10:25259200-25264200	Weak transcription	Brain Substantia Nigra	brain
9	chr10:25259200-25269000	Weak transcription	Brain Anterior Caudate	brain
10	chr10:25259400-25263400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:25259400-25263400	Weak transcription	Osteobl	bone
12	chr10:25259400-25263800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr10:25259600-25262200	Weak transcription	Fetal Muscle Leg	muscle
14	chr10:25259600-25263200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:25260200-25261000	Enhancers	HepG2	liver
16	chr10:25260600-25262000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr10:25260800-25261600	Weak transcription	NHDF-Ad	bronchial
18	chr10:25260800-25261800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr10:25261000-25261400	Weak transcription	HepG2	liver
20	chr10:25261400-25262000	Enhancers	HepG2	liver

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