Variant report

Variant	esv3430719
Chromosome Location	chr10:27989546-27991744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12266542	chr10:27989548-27989549	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571794355	chr10:27989550-27989551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs59506586	chr10:27989557-27989558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541174293	chr10:27989568-27989569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2492916	chr10:27989585-27989586	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs371120328	chr10:27989595-27989596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555627747	chr10:27989609-27989610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557095582	chr10:27989660-27989661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143153011	chr10:27989693-27989694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556418910	chr10:27989810-27989811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577890098	chr10:27989851-27989852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs72629773	chr10:27989858-27989859	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs557699040	chr10:27989859-27989860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572751100	chr10:27989888-27989889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540317916	chr10:27989893-27989894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146763999	chr10:27989897-27989898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573863494	chr10:27989958-27989959	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544446294	chr10:27989972-27989973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140398920	chr10:27989977-27989978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533228119	chr10:27990010-27990011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543474720	chr10:27990025-27990026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574345970	chr10:27990116-27990117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2451920	chr10:27990117-27990118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2492917	chr10:27990122-27990123	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527726014	chr10:27990135-27990136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184780666	chr10:27990160-27990161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150640209	chr10:27990213-27990214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72395555	chr10:27990214-27990215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs386371012	chr10:27990216-27990217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144117537	chr10:27990227-27990228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76204010	chr10:27990228-27990229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200226744	chr10:27990231-27990232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs60145139	chr10:27990234-27990235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10829310	chr10:27990235-27990236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76877924	chr10:27990237-27990238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144175103	chr10:27990298-27990299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369130643	chr10:27990311-27990312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373884371	chr10:27990316-27990317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377025347	chr10:27990317-27990318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371567197	chr10:27990318-27990319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374182215	chr10:27990319-27990320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11015956	chr10:27990349-27990350	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs551257429	chr10:27990371-27990372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2451921	chr10:27990406-27990407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549929669	chr10:27990441-27990442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571518412	chr10:27990486-27990487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs539276693	chr10:27990490-27990491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554212198	chr10:27990549-27990550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376837105	chr10:27990650-27990651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562111512	chr10:27990708-27990709	Enhancers 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
Prostate cancer	22341455	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:27984400-27990800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr10:27984400-27990800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr10:27985400-27990800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr10:27985800-27990800	Weak transcription	Osteobl	bone
5	chr10:27985800-28001400	Weak transcription	Aorta	Aorta
6	chr10:27987200-27989600	Enhancers	Fetal Stomach	stomach
7	chr10:27987400-27990800	Weak transcription	Fetal Muscle Leg	muscle
8	chr10:27988200-27990400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:27988400-27989600	Enhancers	Adipose Nuclei	Adipose
10	chr10:27988400-27989800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr10:27988600-27989600	Enhancers	Liver	Liver
12	chr10:27988600-27989600	Enhancers	Stomach Smooth Muscle	stomach
13	chr10:27988800-27989600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:27988800-27989600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:27988800-27989600	Enhancers	NHDF-Ad	bronchial
16	chr10:27988800-27991000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:27988800-27991400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr10:27988800-27992000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr10:27989000-27990800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr10:27989000-27991000	Weak transcription	Ovary	ovary
21	chr10:27989200-27990400	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:27989200-27991600	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr10:27989400-27990000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr10:27989400-27991400	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:27989400-27991400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:27989400-27991600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr10:27989600-27990800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:27989600-27990800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr10:27989600-27990800	Weak transcription	Fetal Stomach	stomach
30	chr10:27989600-27990800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:27989600-27991000	Weak transcription	NHDF-Ad	bronchial
32	chr10:27989600-27991600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr10:27989800-27990800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:27990000-27990600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:27990000-27991200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr10:27990400-27990600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr10:27990600-27990800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr10:27990600-27991600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr10:27990800-27991000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:27990800-27991000	Enhancers	Colon Smooth Muscle	Colon
41	chr10:27990800-27991000	Enhancers	Rectal Smooth Muscle	rectum
42	chr10:27990800-27991000	Active TSS	Stomach Smooth Muscle	stomach
43	chr10:27990800-27991000	Enhancers	Osteobl	bone
44	chr10:27990800-27991200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr10:27990800-27991200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:27990800-27991200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:27990800-27991200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:27990800-27991200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr10:27990800-27991400	Enhancers	Fetal Muscle Leg	muscle
50	chr10:27990800-27991600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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