Variant report

Variant	esv4994
Chromosome Location	chr10:18503046-18503751
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	rs371911960	chr10:18503065-18503066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77718224	chr10:18503077-18503078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369969893	chr10:18503078-18503079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529969241	chr10:18503091-18503092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs11013031	chr10:18503129-18503130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs78300512	chr10:18503140-18503141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs148368031	chr10:18503194-18503195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551962711	chr10:18503242-18503243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566343754	chr10:18503262-18503263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78308268	chr10:18503269-18503270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187259376	chr10:18503278-18503279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550110790	chr10:18503284-18503285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568417888	chr10:18503303-18503304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11013033	chr10:18503352-18503353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553961861	chr10:18503373-18503374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11013034	chr10:18503407-18503408	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs557959903	chr10:18503464-18503465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576429687	chr10:18503470-18503471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139324095	chr10:18503503-18503504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555754899	chr10:18503514-18503515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs143908191	chr10:18503547-18503548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77329813	chr10:18503588-18503589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74858911	chr10:18503589-18503590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191671047	chr10:18503601-18503602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs147257784	chr10:18503637-18503638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs80219132	chr10:18503659-18503660	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2482119	chr10:18503661-18503662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs564025892	chr10:18503676-18503677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs73595550	chr10:18503690-18503691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs549375167	chr10:18503697-18503698	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184111858	chr10:18503705-18503706	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144575068	chr10:18503717-18503718	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:37 , 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	chr10:18494400-18503600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr10:18499200-18511000	Weak transcription	Aorta	Aorta
5	chr10:18500000-18504800	Enhancers	Rectal Smooth Muscle	rectum
6	chr10:18500200-18506000	Weak transcription	Right Atrium	heart
7	chr10:18500400-18503600	Enhancers	Colon Smooth Muscle	Colon
8	chr10:18501200-18503400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:18502000-18504400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr10:18502200-18503600	Weak transcription	Brain Angular Gyrus	brain
11	chr10:18502200-18503600	Weak transcription	Left Ventricle	heart
12	chr10:18502200-18503600	Weak transcription	Ovary	ovary
13	chr10:18502400-18503600	Weak transcription	Fetal Stomach	stomach
14	chr10:18502400-18503600	Weak transcription	Pancreas	Pancrea
15	chr10:18502400-18503800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:18502400-18513600	Weak transcription	Right Ventricle	heart
17	chr10:18502600-18503600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:18502800-18503600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr10:18502800-18505400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr10:18503000-18503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr10:18503000-18503400	Weak transcription	Fetal Heart	heart
22	chr10:18503000-18503400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr10:18503400-18503600	Enhancers	Stomach Smooth Muscle	stomach
24	chr10:18503400-18504800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr10:18503400-18505800	Enhancers	Fetal Heart	heart
26	chr10:18503600-18503800	Enhancers	Left Ventricle	heart
27	chr10:18503600-18503800	Enhancers	Pancreas	Pancrea
28	chr10:18503600-18504000	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr10:18503600-18504400	Enhancers	Brain Angular Gyrus	brain
30	chr10:18503600-18504400	Enhancers	Brain Anterior Caudate	brain
31	chr10:18503600-18504400	Enhancers	Brain Hippocampus Middle	brain
32	chr10:18503600-18504400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr10:18503600-18504400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr10:18503600-18504400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr10:18503600-18504600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:18503600-18505000	Enhancers	Ovary	ovary
37	chr10:18503600-18505400	Enhancers	Fetal Stomach	stomach

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