Variant report

Variant	esv3362263
Chromosome Location	chr10:27929908-27934180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77704233	chr10:27929912-27929913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576084541	chr10:27929928-27929929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536571323	chr10:27929950-27929951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543159620	chr10:27930057-27930058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2808262	chr10:27930113-27930114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs576879307	chr10:27930143-27930144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559607150	chr10:27930159-27930160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112820658	chr10:27930171-27930172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2815532	chr10:27930226-27930227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2808263	chr10:27930244-27930245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs139541798	chr10:27930277-27930278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548591057	chr10:27930286-27930287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2808264	chr10:27930331-27930332	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs199727099	chr10:27930349-27930350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1687736	chr10:27930358-27930359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2808265	chr10:27930359-27930360	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs112168367	chr10:27930360-27930361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182027528	chr10:27930408-27930409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534908193	chr10:27930410-27930411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77421290	chr10:27930417-27930418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186068907	chr10:27930420-27930421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190276414	chr10:27930422-27930423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535793200	chr10:27930429-27930430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144185755	chr10:27930441-27930442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575960253	chr10:27930472-27930473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534694725	chr10:27930558-27930559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374646477	chr10:27930559-27930560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76906951	chr10:27930565-27930566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181520141	chr10:27930579-27930580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186881989	chr10:27930688-27930689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2637331	chr10:27930693-27930694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574778415	chr10:27930698-27930699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2642285	chr10:27930734-27930735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563659420	chr10:27930753-27930754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545823553	chr10:27930770-27930771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1690678	chr10:27930818-27930819	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191323472	chr10:27930867-27930868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528604457	chr10:27930876-27930877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546788202	chr10:27930888-27930889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577025338	chr10:27930907-27930908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568318548	chr10:27930935-27930936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183242118	chr10:27930939-27930940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546033345	chr10:27931083-27931084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4749254	chr10:27931136-27931137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs367671306	chr10:27931166-27931167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2808266	chr10:27931270-27931271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2808267	chr10:27931304-27931305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs558555365	chr10:27931368-27931369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2815533	chr10:27931399-27931400	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs534755133	chr10:27931453-27931454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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
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
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27927200-27932200	Weak transcription	Osteobl	bone
2	chr10:27927400-27932000	Weak transcription	HSMMtube	muscle
3	chr10:27927800-27932200	Weak transcription	Adipose Nuclei	Adipose
4	chr10:27931800-27932200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr10:27932000-27932600	Enhancers	Fetal Muscle Leg	muscle
6	chr10:27932000-27932600	Enhancers	Ovary	ovary
7	chr10:27932000-27932800	Enhancers	HSMM	muscle
8	chr10:27932000-27933400	Enhancers	HSMMtube	muscle
9	chr10:27932200-27932400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:27932200-27932400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr10:27932200-27932600	Enhancers	Adipose Nuclei	Adipose
12	chr10:27932200-27932800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr10:27932200-27934000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:27932200-27935600	Enhancers	Osteobl	bone
15	chr10:27932400-27932600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:27932400-27932800	Enhancers	Rectal Smooth Muscle	rectum
17	chr10:27932400-27933600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr10:27932600-27932800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:27932600-27932800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr10:27932600-27933600	Weak transcription	Fetal Muscle Leg	muscle
21	chr10:27932600-27933600	Weak transcription	Ovary	ovary
22	chr10:27932600-27935000	Weak transcription	Adipose Nuclei	Adipose
23	chr10:27932800-27933800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:27932800-27934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:27932800-27935200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr10:27932800-27935400	Weak transcription	HSMM	muscle
27	chr10:27933000-27934400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr10:27933200-27933600	Weak transcription	NHDF-Ad	bronchial
29	chr10:27933200-27934000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr10:27933400-27934400	Weak transcription	HSMMtube	muscle
31	chr10:27933600-27933800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:27933600-27933800	Enhancers	Ovary	ovary
33	chr10:27933600-27934800	Enhancers	Fetal Muscle Leg	muscle
34	chr10:27933600-27936200	Enhancers	NHDF-Ad	bronchial
35	chr10:27933800-27934400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:27933800-27934600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr10:27933800-27963600	Weak transcription	Ovary	ovary
38	chr10:27934000-27934400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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