Variant report

Variant	esv14688
Chromosome Location	chr10:28504295-28511827
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 287 )
Associated
traits (count: 44 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550562876	chr10:28504324-28504325	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs75233901	chr10:28504328-28504329	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs7078271	chr10:28504329-28504330	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182602016	chr10:28504371-28504372	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139961504	chr10:28504438-28504439	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs374525490	chr10:28504454-28504455	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113105809	chr10:28504455-28504456	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs143508226	chr10:28504476-28504477	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs544874929	chr10:28504500-28504501	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557007701	chr10:28504510-28504511	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs573924583	chr10:28504511-28504512	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111746807	chr10:28504529-28504530	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532987071	chr10:28504556-28504557	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs10826426	chr10:28504570-28504571	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116478040	chr10:28504575-28504576	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs572813270	chr10:28504597-28504598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs540442149	chr10:28504605-28504606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112878995	chr10:28504626-28504627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12265742	chr10:28504633-28504634	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139105194	chr10:28504638-28504639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192022787	chr10:28504649-28504650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149892759	chr10:28504655-28504656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533133960	chr10:28504679-28504680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551617288	chr10:28504689-28504690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79396973	chr10:28504713-28504714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572946469	chr10:28504759-28504760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534009695	chr10:28504776-28504777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76253850	chr10:28504814-28504815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs116466274	chr10:28504859-28504860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143499435	chr10:28504916-28504917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538581538	chr10:28504935-28504936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11006923	chr10:28504944-28504945	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
33	rs144946149	chr10:28504963-28504964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72803686	chr10:28504980-28504981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557437816	chr10:28504999-28505000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568016281	chr10:28505006-28505007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539906977	chr10:28505009-28505010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75023615	chr10:28505063-28505064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397947452	chr10:28505064-28505065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149024576	chr10:28505065-28505066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141774421	chr10:28505066-28505067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149550780	chr10:28505068-28505069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181590846	chr10:28505124-28505125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573496410	chr10:28505133-28505134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544127612	chr10:28505135-28505136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185761580	chr10:28505159-28505160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533024404	chr10:28505209-28505210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7091235	chr10:28505223-28505224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs560243426	chr10:28505295-28505296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190121673	chr10:28505320-28505321	Weak transcription Enhancers	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:197 , 50 per page) page: 1 2 3 4

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	chr10:28497400-28506600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr10:28498000-28505600	Weak transcription	HSMMtube	muscle
12	chr10:28498000-28506600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr10:28498200-28504400	Weak transcription	Lung	lung
14	chr10:28498200-28506600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr10:28498200-28531200	Weak transcription	Primary B cells from cord blood	blood
16	chr10:28498200-28537000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr10:28498400-28504400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr10:28499000-28505000	Weak transcription	HepG2	liver
19	chr10:28499000-28506800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:28499000-28507000	Weak transcription	Ovary	ovary
21	chr10:28500400-28506800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:28501800-28504400	Weak transcription	Gastric	stomach
23	chr10:28501800-28506200	Weak transcription	Stomach Smooth Muscle	stomach
24	chr10:28502000-28504400	Weak transcription	Stomach Mucosa	stomach
25	chr10:28502000-28506400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:28502000-28531600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:28502400-28506600	Weak transcription	Primary T cells from cord blood	blood
28	chr10:28502400-28523000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr10:28502400-28525000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:28502600-28506600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr10:28502600-28507000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr10:28503000-28506000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr10:28503200-28505000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr10:28503200-28505000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr10:28503200-28505200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr10:28503400-28504400	Weak transcription	HSMM	muscle
37	chr10:28503400-28505000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr10:28503400-28505200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr10:28503400-28505200	Enhancers	Pancreas	Pancrea
40	chr10:28503400-28505400	Enhancers	Placenta	Placenta
41	chr10:28503400-28506200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr10:28503400-28506600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr10:28503600-28504600	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr10:28503800-28515600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr10:28504000-28504400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr10:28504000-28505000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr10:28504200-28504600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr10:28504200-28504800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr10:28504200-28506600	Enhancers	Hela-S3	cervix
50	chr10:28504200-28506800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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