Variant report

Variant	esv3426814
Chromosome Location	chr10:746187-746674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:739447..741646-chr10:745969..747507,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200563447	chr10:746207-746208	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs11814571	chr10:746215-746216	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550689487	chr10:746251-746252	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs11819490	chr10:746280-746281	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs567320904	chr10:746289-746290	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs536362321	chr10:746294-746295	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs552970730	chr10:746296-746297	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs566366085	chr10:746297-746298	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs28451653	chr10:746320-746321	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs28468380	chr10:746321-746322	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs28634554	chr10:746330-746331	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539296205	chr10:746334-746335	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs28613550	chr10:746336-746337	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs184497717	chr10:746342-746343	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs575792428	chr10:746344-746345	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28537263	chr10:746346-746347	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs563854747	chr10:746359-746360	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs554752391	chr10:746369-746370	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs28454044	chr10:746381-746382	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs574560314	chr10:746383-746384	ZNF genes & repeats Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs111218150	chr10:746426-746427	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377752130	chr10:746447-746448	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs540351950	chr10:746463-746464	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372792251	chr10:746467-746468	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs28521585	chr10:746478-746479	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551323774	chr10:746503-746504	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28584054	chr10:746513-746514	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111207823	chr10:746530-746531	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2478240	chr10:746531-746532	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200854162	chr10:746543-746544	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs28539204	chr10:746545-746546	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs4880738	chr10:746580-746581	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545276769	chr10:746582-746583	ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565078160	chr10:746605-746606	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs139610591	chr10:746656-746657	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs186719485	chr10:746657-746658	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Obesity	19966786	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:736400-746400	Weak transcription	Right Atrium	heart
2	chr10:740000-746200	Weak transcription	Pancreas	Pancrea
3	chr10:744000-746400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:746000-746200	Bivalent/Poised TSS	Fetal Lung	lung
5	chr10:746000-746600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr10:746000-746600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:746200-746400	Bivalent/Poised TSS	NHDF-Ad	bronchial
8	chr10:746200-746600	ZNF genes & repeats	Pancreas	Pancrea
9	chr10:746400-746600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:746400-746600	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:746400-746600	Bivalent Enhancer	Fetal Kidney	kidney
12	chr10:746400-746600	Enhancers	Gastric	stomach
13	chr10:746400-746600	ZNF genes & repeats	Right Atrium	heart
14	chr10:746600-746800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:746600-747200	Weak transcription	Right Atrium	heart
16	chr10:746600-751600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr10:746600-758000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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