Variant report

Variant	esv2760104
Chromosome Location	chr10:26679548-26693124
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:26692097..26692617-chr4:116457976..116458496,2	MCF-7	breast:
2	chr10:26692597..26693117-chr2:31059867..31060387,2	MCF-7	breast:
3	chr10:26692097..26692617-chr17:50247612..50248132,2	MCF-7	breast:
4	chr10:26692097..26692617-chr4:146024840..146025360,2	MCF-7	breast:
5	chr10:26692097..26692617-chr11:21332888..21333408,2	MCF-7	breast:
6	chr10:26692597..26693117-chr4:171403756..171404276,2	MCF-7	breast:

Extended variants
information (count: 609 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144509652	chr10:26679567-26679568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146628538	chr10:26679712-26679713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568086408	chr10:26679757-26679758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552159763	chr10:26679792-26679793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2992291	chr10:26679816-26679817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184855600	chr10:26679871-26679872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190649185	chr10:26679872-26679873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373716235	chr10:26679885-26679886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574724724	chr10:26679887-26679888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11311311	chr10:26679916-26679917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540149586	chr10:26679936-26679937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560106017	chr10:26679987-26679988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541893277	chr10:26680007-26680008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551872929	chr10:26680008-26680009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562209089	chr10:26680009-26680010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531288312	chr10:26680013-26680014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs550789841	chr10:26680020-26680021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557124102	chr10:26680054-26680055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187026272	chr10:26680071-26680072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200080959	chr10:26680079-26680080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201224274	chr10:26680080-26680081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200227850	chr10:26680088-26680089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567755000	chr10:26680089-26680090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191063999	chr10:26680116-26680117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570548677	chr10:26680164-26680165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145128359	chr10:26680227-26680228	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs546937005	chr10:26680233-26680234	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs181542854	chr10:26680243-26680244	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs538621614	chr10:26680245-26680246	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs12781300	chr10:26680305-26680306	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs111619492	chr10:26680316-26680317	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs569404450	chr10:26680461-26680462	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs538340729	chr10:26680480-26680481	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs554846003	chr10:26680518-26680519	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553175590	chr10:26680520-26680521	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs36052012	chr10:26680583-26680584	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112532233	chr10:26680590-26680591	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs576785162	chr10:26680598-26680599	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs561995362	chr10:26680605-26680606	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs373572832	chr10:26680626-26680627	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs562120738	chr10:26680659-26680660	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs531350553	chr10:26680786-26680787	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs541512978	chr10:26680860-26680861	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs945293	chr10:26680868-26680869	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs369352782	chr10:26680915-26680916	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530186669	chr10:26680966-26680967	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs945292	chr10:26680991-26680992	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs567087772	chr10:26681015-26681016	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs11015082	chr10:26681046-26681047	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552652273	chr10:26681066-26681067	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
small cell lung cancer	20016488	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
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26665800-26680600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:26676800-26680000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr10:26677000-26680000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr10:26680000-26680400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr10:26680000-26680800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr10:26680200-26680400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr10:26680200-26680400	Bivalent Enhancer	Fetal Thymus	thymus
8	chr10:26680200-26680800	Enhancers	Primary B cells from peripheral blood	blood
9	chr10:26680400-26680600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
10	chr10:26680400-26680600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr10:26680400-26680600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:26680400-26680600	Enhancers	Primary hematopoietic stem cells	blood
13	chr10:26680400-26680600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr10:26680400-26680600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:26680400-26680600	Bivalent Enhancer	Fetal Brain Female	brain
16	chr10:26680400-26680800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
17	chr10:26680400-26680800	Enhancers	Primary B cells from cord blood	blood
18	chr10:26680400-26681200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr10:26680400-26681200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr10:26680400-26681200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr10:26680400-26681400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr10:26680400-26681400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr10:26680400-26681400	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
24	chr10:26680400-26681400	Active TSS	Thymus	Thymus
25	chr10:26680400-26681600	Active TSS	Primary T cells from cord blood	blood
26	chr10:26680400-26681800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr10:26680600-26680800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr10:26680600-26680800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
29	chr10:26680600-26680800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
30	chr10:26680600-26680800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:26680600-26680800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:26680600-26680800	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr10:26680600-26681000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr10:26680600-26681000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr10:26680600-26681000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:26680600-26681000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:26680600-26681000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr10:26680600-26681000	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr10:26680600-26681200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
40	chr10:26680600-26681200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr10:26680600-26681200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr10:26680600-26681200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr10:26680600-26681400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr10:26680600-26681400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr10:26680600-26681400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr10:26680600-26681600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:26680600-26681600	Enhancers	GM12878-XiMat	blood
48	chr10:26680800-26681000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr10:26680800-26681000	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr10:26680800-26681000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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