Variant report

Variant	esv3378826
Chromosome Location	chr5:107337117-107337566
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	chr5:107332693..107334247-chr5:107337068..107339147,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142246287	chr5:107337128-107337129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542447337	chr5:107337181-107337182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574977045	chr5:107337192-107337193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547795800	chr5:107337201-107337202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76995423	chr5:107337212-107337213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183946653	chr5:107337227-107337228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6877104	chr5:107337231-107337232	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs550254866	chr5:107337237-107337238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553347229	chr5:107337241-107337242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542018408	chr5:107337248-107337249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563976282	chr5:107337299-107337300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570146338	chr5:107337313-107337314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535283185	chr5:107337320-107337321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555584992	chr5:107337328-107337329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565816278	chr5:107337329-107337330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12513616	chr5:107337346-107337347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546235567	chr5:107337375-107337376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186790389	chr5:107337422-107337423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577171141	chr5:107337434-107337435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543023686	chr5:107337440-107337441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191802693	chr5:107337500-107337501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139152457	chr5:107337516-107337517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564457344	chr5:107337527-107337528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528605411	chr5:107337530-107337531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542034709	chr5:107337544-107337545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397883174	chr5:107337555-107337556	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107319800-107354000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107321200-107338800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:107327400-107353400	Weak transcription	Aorta	Aorta
4	chr5:107333800-107338400	Weak transcription	NHDF-Ad	bronchial
5	chr5:107333800-107338800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:107333800-107338800	Weak transcription	Fetal Brain Male	brain
7	chr5:107334200-107338600	Weak transcription	HUVEC	blood vessel
8	chr5:107336800-107338600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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