Variant report

Variant	esv3424146
Chromosome Location	chr10:823256-823541
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	chr10:823329..824026-chr16:78285555..78286055,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs58936499	chr10:823264-823265	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs59401897	chr10:823270-823271	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs61044244	chr10:823276-823277	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs113503528	chr10:823296-823297	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs556300840	chr10:823299-823300	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs11253432	chr10:823304-823305	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs575765681	chr10:823313-823314	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs58050163	chr10:823314-823315	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs57935357	chr10:823318-823319	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs58540855	chr10:823324-823325	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs57454320	chr10:823332-823333	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs12762391	chr10:823333-823334	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs11253433	chr10:823344-823345	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs535140689	chr10:823362-823363	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs56806540	chr10:823367-823368	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs185256144	chr10:823381-823382	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs12762424	chr10:823382-823383	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs189738834	chr10:823396-823397	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs554962688	chr10:823399-823400	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs551800740	chr10:823410-823411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371830629	chr10:823414-823415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111507295	chr10:823444-823445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112466101	chr10:823464-823465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113129972	chr10:823467-823468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111739762	chr10:823478-823479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12762640	chr10:823479-823480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112978063	chr10:823490-823491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112963240	chr10:823493-823494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541718668	chr10:823514-823515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113785555	chr10:823515-823516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112492041	chr10:823518-823519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112291819	chr10:823541-823542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Aortic dissecting aneurysms	22263138	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:818400-830600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:821400-824000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr10:821800-823800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr10:821800-824600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr10:822000-825000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr10:822000-825000	Weak transcription	NH-A	brain
7	chr10:822000-825400	Weak transcription	Osteobl	bone
8	chr10:822000-830400	Weak transcription	Esophagus	oesophagus
9	chr10:822800-825400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr10:823200-823400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr10:823200-824400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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