Variant report

Variant	esv3514591
Chromosome Location	chr10:28503047-28511888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:28505448..28507000-chr10:28508709..28511532,2	K562	blood:
2	chr10:28503327..28506252-chr10:28507179..28508857,2	MCF-7	breast:
3	chr10:28505448..28507000-chr10:28508709..28511532,2	K562	blood:
4	chr10:28508575..28511096-chr10:28514508..28517306,2	MCF-7	breast:
5	chr10:28503327..28506252-chr10:28507179..28508857,2	MCF-7	breast:

Extended variants
information (count: 339 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373414996	chr10:28503055-28503056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193261531	chr10:28503059-28503060	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565178724	chr10:28503076-28503077	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570672855	chr10:28503087-28503088	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534893075	chr10:28503093-28503094	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553097254	chr10:28503167-28503168	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574738850	chr10:28503221-28503222	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535619229	chr10:28503243-28503244	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185518283	chr10:28503270-28503271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7073107	chr10:28503308-28503309	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs78788411	chr10:28503313-28503314	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114592457	chr10:28503315-28503316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573459687	chr10:28503320-28503321	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531072765	chr10:28503330-28503331	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540879983	chr10:28503353-28503354	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559125430	chr10:28503362-28503363	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11438809	chr10:28503477-28503478	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116127140	chr10:28503485-28503486	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73608072	chr10:28503522-28503523	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374526394	chr10:28503587-28503588	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs141731648	chr10:28503617-28503618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530587334	chr10:28503638-28503639	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552424163	chr10:28503641-28503642	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs559677014	chr10:28503695-28503696	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570582056	chr10:28503738-28503739	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528387200	chr10:28503748-28503749	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546866990	chr10:28503795-28503796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528897083	chr10:28503805-28503806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6481511	chr10:28503850-28503851	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188843583	chr10:28503884-28503885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192855376	chr10:28503888-28503889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs539499375	chr10:28503915-28503916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371055315	chr10:28503926-28503927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573375047	chr10:28503935-28503936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80318824	chr10:28503951-28503952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184286142	chr10:28503973-28503974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs528412002	chr10:28504069-28504070	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs201984767	chr10:28504071-28504072	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs150572329	chr10:28504095-28504096	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs116060394	chr10:28504103-28504104	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541862309	chr10:28504143-28504144	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs554727340	chr10:28504144-28504145	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs6481512	chr10:28504187-28504188	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs188731368	chr10:28504214-28504215	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs11427889	chr10:28504235-28504236	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs181156500	chr10:28504245-28504246	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528288228	chr10:28504250-28504251	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs112392450	chr10:28504264-28504265	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs140707145	chr10:28504268-28504269	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs189141414	chr10:28504276-28504277	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:44)

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
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
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28467600-28525600	Weak transcription	Aorta	Aorta
2	chr10:28485600-28504400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:28487600-28529000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:28489800-28504400	Weak transcription	Esophagus	oesophagus
5	chr10:28491200-28523200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:28492200-28504400	Weak transcription	Psoas Muscle	Psoas
7	chr10:28492200-28506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr10:28492600-28506400	Weak transcription	Colon Smooth Muscle	Colon
9	chr10:28492600-28507200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:28497400-28503800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr10:28497400-28506600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr10:28497800-28503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr10:28498000-28505600	Weak transcription	HSMMtube	muscle
14	chr10:28498000-28506600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr10:28498200-28504400	Weak transcription	Lung	lung
16	chr10:28498200-28506600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr10:28498200-28531200	Weak transcription	Primary B cells from cord blood	blood
18	chr10:28498200-28537000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr10:28498400-28503200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:28498400-28504000	Weak transcription	Fetal Intestine Small	intestine
21	chr10:28498400-28504400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:28499000-28505000	Weak transcription	HepG2	liver
23	chr10:28499000-28506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr10:28499000-28507000	Weak transcription	Ovary	ovary
25	chr10:28500200-28503400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr10:28500400-28503200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr10:28500400-28506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr10:28500600-28503600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr10:28500800-28503200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:28500800-28503400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:28501000-28503800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr10:28501400-28504200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr10:28501400-28504200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:28501800-28503200	Weak transcription	Fetal Heart	heart
35	chr10:28501800-28504400	Weak transcription	Gastric	stomach
36	chr10:28501800-28506200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr10:28502000-28504400	Weak transcription	Stomach Mucosa	stomach
38	chr10:28502000-28506400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:28502000-28531600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr10:28502200-28503400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:28502400-28503200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr10:28502400-28506600	Weak transcription	Primary T cells from cord blood	blood
43	chr10:28502400-28523000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr10:28502400-28525000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:28502600-28506600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr10:28502600-28507000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr10:28502800-28503800	Enhancers	Hela-S3	cervix
48	chr10:28503000-28503200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr10:28503000-28503200	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr10:28503000-28503400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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