Variant report

Variant	esv14927
Chromosome Location	chr10:18378907-18402738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18380812..18382353-chr10:18384602..18387470,2	MCF-7	breast:
2	chr10:18392878..18393854-chr10:18503287..18504544,6	MCF-7	breast:
3	chr10:17649692..17651543-chr10:18392877..18394730,2	K562	blood:
4	chr10:18371118..18373619-chr10:18379416..18382844,3	K562	blood:
5	chr10:18380812..18382353-chr10:18384602..18387470,2	MCF-7	breast:

Extended variants
information (count: 538 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555183682	chr10:18382014-18382015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373870054	chr10:18382065-18382066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542303988	chr10:18382084-18382085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370619022	chr10:18382153-18382154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554583261	chr10:18382157-18382158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142854799	chr10:18382160-18382161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150624678	chr10:18382176-18382177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187221133	chr10:18382259-18382260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7069285	chr10:18382269-18382270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368619140	chr10:18382285-18382286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562928913	chr10:18382293-18382294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532815083	chr10:18382296-18382297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544824144	chr10:18382367-18382368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563071861	chr10:18382373-18382374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530262107	chr10:18382389-18382390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548369707	chr10:18382409-18382410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372712932	chr10:18382412-18382413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560604101	chr10:18382424-18382425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373821343	chr10:18382478-18382479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552499787	chr10:18382492-18382493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551410520	chr10:18382525-18382526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571218476	chr10:18382527-18382528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538539053	chr10:18382531-18382532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142122595	chr10:18382538-18382539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550409241	chr10:18382550-18382551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113287031	chr10:18382680-18382681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35003945	chr10:18382715-18382716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397845673	chr10:18382716-18382717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536382100	chr10:18382717-18382718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554383681	chr10:18382793-18382794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367669662	chr10:18382817-18382818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149758326	chr10:18382824-18382825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73591755	chr10:18382839-18382840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577650334	chr10:18382853-18382854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544915199	chr10:18382860-18382861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559365083	chr10:18382870-18382871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11429403	chr10:18382871-18382872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10828233	chr10:18382876-18382877	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527964236	chr10:18382881-18382882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542384042	chr10:18382888-18382889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560388996	chr10:18382889-18382890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527746104	chr10:18382901-18382902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371713960	chr10:18382904-18382905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146758767	chr10:18382925-18382926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190194604	chr10:18382927-18382928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550446031	chr10:18382935-18382936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182417646	chr10:18382951-18382952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536079643	chr10:18382954-18382955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201380210	chr10:18382959-18382960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370360866	chr10:18382960-18382961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
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
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	19287155	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18382000-18382200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr10:18382200-18383800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr10:18383000-18387200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:18383200-18383400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr10:18383200-18383800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr10:18383600-18384400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr10:18383600-18384800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr10:18383600-18387000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr10:18383800-18384000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr10:18383800-18384600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr10:18383800-18385200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr10:18384000-18384200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr10:18384000-18385000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr10:18384400-18384600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr10:18384400-18384800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr10:18384600-18385800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr10:18384600-18386200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr10:18384800-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:18384800-18386600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr10:18384800-18387200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr10:18385000-18387000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr10:18385200-18385600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:18385200-18386000	Enhancers	Right Ventricle	heart
24	chr10:18385200-18386600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr10:18385600-18386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr10:18385600-18386800	Enhancers	Fetal Heart	heart
27	chr10:18385800-18386600	Enhancers	H9 Cell Line	embryonic stem cell
28	chr10:18385800-18386600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:18385800-18386600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr10:18385800-18386800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr10:18385800-18387000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr10:18386000-18387200	Enhancers	NH-A	brain
33	chr10:18386200-18386800	Enhancers	NHEK	skin
34	chr10:18386200-18387200	Enhancers	H1 Cell Line	embryonic stem cell
35	chr10:18386200-18387200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr10:18386400-18387200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr10:18386600-18387200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr10:18386800-18388400	Weak transcription	Fetal Heart	heart
39	chr10:18387200-18387400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr10:18388200-18388800	Enhancers	Colon Smooth Muscle	Colon
41	chr10:18388400-18388800	Enhancers	Fetal Heart	heart
42	chr10:18388800-18390400	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr10:18389000-18389800	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:18389000-18390400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr10:18389000-18390400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr10:18389200-18390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr10:18389600-18390000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:18390400-18393000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr10:18392800-18393200	Active TSS	NHDF-Ad	bronchial
50	chr10:18393000-18393200	Active TSS	Brain Substantia Nigra	brain

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