Variant report

Variant	esv19781
Chromosome Location	chr10:1410813-1411921
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:1405933..1409166-chr10:1409590..1411294,4	MCF-7	breast:
2	chr10:1273734..1274616-chr10:1410836..1411662,2	MCF-7	breast:
3	chr10:1155649..1156639-chr10:1410710..1411699,3	MCF-7	breast:
4	chr10:1407492..1409937-chr10:1410725..1413056,2	K562	blood:
5	chr10:1156155..1156681-chr10:1410890..1411623,2	K562	blood:
6	chr10:1343104..1343866-chr10:1410880..1411791,3	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373797246	chr10:1410849-1410850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs193134189	chr10:1410866-1410867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs80050718	chr10:1410875-1410876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57180724	chr10:1410916-1410917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs60199866	chr10:1410927-1410928	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs116995503	chr10:1410942-1410943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs36167841	chr10:1410980-1410981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544330937	chr10:1410986-1410987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12762472	chr10:1411012-1411013	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78943262	chr10:1411017-1411018	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12762476	chr10:1411023-1411024	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12761034	chr10:1411031-1411032	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs3001045	chr10:1411035-1411036	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs76966424	chr10:1411049-1411050	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59342444	chr10:1411058-1411059	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141344401	chr10:1411060-1411061	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190174847	chr10:1411067-1411068	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560391948	chr10:1411072-1411073	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs3001046	chr10:1411080-1411081	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11250471	chr10:1411081-1411082	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78454045	chr10:1411085-1411086	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs36139250	chr10:1411099-1411100	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9419489	chr10:1411103-1411104	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79049672	chr10:1411108-1411109	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552139602	chr10:1411118-1411119	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71379113	chr10:1411124-1411125	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9419490	chr10:1411125-1411126	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57522915	chr10:1411138-1411139	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs57768833	chr10:1411139-1411140	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201540687	chr10:1411143-1411144	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36139735	chr10:1411146-1411147	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377762526	chr10:1411158-1411159	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554348853	chr10:1411171-1411172	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2805582	chr10:1411182-1411183	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10794741	chr10:1411184-1411185	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs548280065	chr10:1411186-1411187	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs36151440	chr10:1411217-1411218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10794742	chr10:1411228-1411229	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs545628008	chr10:1411236-1411237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181513262	chr10:1411275-1411276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570724013	chr10:1411284-1411285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10794743	chr10:1411286-1411287	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs532096435	chr10:1411297-1411298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373863585	chr10:1411319-1411320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556423449	chr10:1411320-1411321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs575519521	chr10:1411326-1411327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575884536	chr10:1411330-1411331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10794744	chr10:1411340-1411341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554625519	chr10:1411353-1411354	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574619576	chr10:1411430-1411431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1404800-1419600	Weak transcription	Right Atrium	heart
2	chr10:1408800-1411000	Weak transcription	Fetal Intestine Small	intestine
3	chr10:1409600-1411000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr10:1410200-1411000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr10:1410200-1411000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr10:1410200-1412200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:1410600-1411200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:1410600-1411200	Enhancers	Esophagus	oesophagus
9	chr10:1410600-1411400	Enhancers	Brain Cingulate Gyrus	brain
10	chr10:1410600-1411600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr10:1410600-1411600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:1410600-1412200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr10:1410600-1412200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr10:1410600-1412200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:1410600-1412200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr10:1410600-1412200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:1410800-1411200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr10:1410800-1412200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:1410800-1412200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:1410800-1412200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:1410800-1412200	Enhancers	Brain Substantia Nigra	brain
22	chr10:1410800-1412400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr10:1410800-1412400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr10:1410800-1412400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:1410800-1412400	Enhancers	Fetal Intestine Large	intestine
26	chr10:1411000-1411200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
27	chr10:1411000-1411200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr10:1411000-1411200	Bivalent Enhancer	Adipose Nuclei	Adipose
29	chr10:1411000-1411200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr10:1411000-1411200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr10:1411000-1411600	Enhancers	HepG2	liver
32	chr10:1411000-1411800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr10:1411000-1412200	Enhancers	Duodenum Mucosa	Duodenum
34	chr10:1411000-1412200	Enhancers	Fetal Intestine Small	intestine
35	chr10:1411000-1412200	Enhancers	Pancreas	Pancrea
36	chr10:1411200-1412200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr10:1411400-1411800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:1411600-1412000	Flanking Active TSS	HepG2	liver
39	chr10:1411600-1415600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr10:1411800-1412200	Enhancers	Brain Cingulate Gyrus	brain
41	chr10:1411800-1412200	Enhancers	Brain Hippocampus Middle	brain

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