Variant report

Variant	esv3328369
Chromosome Location	chr10:25386066-25386658
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	chr10:25350226..25351753-chr10:25385209..25386887,2	K562	blood:
2	chr10:25384858..25387044-chr10:25387748..25390557,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 40 )

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	rs191806348	chr10:25386070-25386071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557806837	chr10:25386087-25386088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577791061	chr10:25386114-25386115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537237327	chr10:25386258-25386259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556880550	chr10:25386306-25386307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573597292	chr10:25386314-25386315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs57542069	chr10:25386340-25386341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558403627	chr10:25386371-25386372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561761445	chr10:25386372-25386373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572373774	chr10:25386390-25386391	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574617351	chr10:25386460-25386461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541192050	chr10:25386477-25386478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79684016	chr10:25386498-25386499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs55881837	chr10:25386539-25386540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs550393406	chr10:25386576-25386577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs573137539	chr10:25386603-25386604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs148327255	chr10:25386626-25386627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:25385000-25386800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr10:25385200-25386600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr10:25385400-25386400	Enhancers	Brain Cingulate Gyrus	brain
4	chr10:25386000-25389800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:25386000-25390400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:25386000-25393400	Weak transcription	Brain Anterior Caudate	brain
7	chr10:25386000-25393400	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:25386000-25393400	Weak transcription	Brain Substantia Nigra	brain
9	chr10:25386200-25386400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr10:25386400-25388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr10:25386600-25386800	Enhancers	Fetal Brain Male	brain
12	chr10:25386600-25390600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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