Variant report

Variant	esv17952
Chromosome Location	chr10:18503647-18504164
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	chr10:18392878..18393854-chr10:18503287..18504544,6	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 41 )

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	rs80219132	chr10:18503659-18503660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2482119	chr10:18503661-18503662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564025892	chr10:18503676-18503677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs73595550	chr10:18503690-18503691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549375167	chr10:18503697-18503698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184111858	chr10:18503705-18503706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs144575068	chr10:18503717-18503718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547753417	chr10:18503760-18503761	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112188601	chr10:18503777-18503778	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs114512318	chr10:18503813-18503814	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs551903996	chr10:18503880-18503881	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7893583	chr10:18503900-18503901	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs537505557	chr10:18503917-18503918	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs11013037	chr10:18503928-18503929	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs112986662	chr10:18503935-18503936	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs535781779	chr10:18503957-18503958	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553775218	chr10:18503970-18503971	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs546213928	chr10:18503975-18503976	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs188401141	chr10:18503998-18503999	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs78308623	chr10:18504035-18504036	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs3068766	chr10:18504036-18504037	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs200790358	chr10:18504037-18504038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs189858614	chr10:18504038-18504039	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs201708203	chr10:18504039-18504040	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150981838	chr10:18504046-18504047	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs56405917	chr10:18504047-18504048	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs11013039	chr10:18504074-18504075	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs140802338	chr10:18504097-18504098	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543087410	chr10:18504106-18504107	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144679763	chr10:18504115-18504116	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs79079388	chr10:18504127-18504128	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146683854	chr10:18504148-18504149	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18485000-18503800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:18493800-18503800	Weak transcription	Fetal Brain Male	brain
3	chr10:18499200-18511000	Weak transcription	Aorta	Aorta
4	chr10:18500000-18504800	Enhancers	Rectal Smooth Muscle	rectum
5	chr10:18500200-18506000	Weak transcription	Right Atrium	heart
6	chr10:18502000-18504400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr10:18502400-18503800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr10:18502400-18513600	Weak transcription	Right Ventricle	heart
9	chr10:18502800-18505400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr10:18503400-18504800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr10:18503400-18505800	Enhancers	Fetal Heart	heart
12	chr10:18503600-18503800	Enhancers	Left Ventricle	heart
13	chr10:18503600-18503800	Enhancers	Pancreas	Pancrea
14	chr10:18503600-18504000	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr10:18503600-18504400	Enhancers	Brain Angular Gyrus	brain
16	chr10:18503600-18504400	Enhancers	Brain Anterior Caudate	brain
17	chr10:18503600-18504400	Enhancers	Brain Hippocampus Middle	brain
18	chr10:18503600-18504400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:18503600-18504400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr10:18503600-18504400	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr10:18503600-18504600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:18503600-18505000	Enhancers	Ovary	ovary
23	chr10:18503600-18505400	Enhancers	Fetal Stomach	stomach
24	chr10:18503800-18504000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:18503800-18504000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr10:18503800-18504000	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr10:18503800-18504200	Weak transcription	Left Ventricle	heart
28	chr10:18503800-18504200	Weak transcription	Pancreas	Pancrea
29	chr10:18503800-18504400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:18503800-18504400	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr10:18503800-18504400	Enhancers	Fetal Brain Male	brain
32	chr10:18503800-18504800	Enhancers	Fetal Lung	lung
33	chr10:18504000-18505400	Enhancers	Colon Smooth Muscle	Colon

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