Variant report

Variant	esv3400271
Chromosome Location	chr5:107592032-107592578
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	chr5:107591521..107593328-chr5:107594496..107596431,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574607067	chr5:107592050-107592051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541928318	chr5:107592054-107592055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561162344	chr5:107592119-107592120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs183379222	chr5:107592128-107592129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28513512	chr5:107592166-107592167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs539320876	chr5:107592174-107592175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371552120	chr5:107592268-107592269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10477419	chr5:107592304-107592305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs189182524	chr5:107592363-107592364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543739954	chr5:107592459-107592460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555597680	chr5:107592480-107592481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs5870310	chr5:107592542-107592543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374807210	chr5:107592563-107592564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565175107	chr5:107592575-107592576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107561400-107595000	Weak transcription	Psoas Muscle	Psoas
2	chr5:107575200-107596200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:107575400-107617600	Weak transcription	Primary B cells from cord blood	blood
4	chr5:107575600-107595000	Weak transcription	Right Ventricle	heart
5	chr5:107576800-107595200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:107577000-107616000	Weak transcription	Primary T cells from cord blood	blood
7	chr5:107585000-107617800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:107586200-107595000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:107587800-107595000	Weak transcription	Liver	Liver
10	chr5:107588800-107594800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:107589200-107595800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:107589400-107595000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:107589400-107595200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr5:107589600-107595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:107589800-107595200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:107591200-107592200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr5:107591800-107593600	Weak transcription	Fetal Heart	heart
18	chr5:107591800-107596200	Weak transcription	Ovary	ovary
19	chr5:107592000-107593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:107592000-107593800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:107592000-107595000	Weak transcription	Fetal Intestine Large	intestine
22	chr5:107592000-107595800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:107592000-107596000	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:107592200-107592600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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