Variant report

Variant	esv3517808
Chromosome Location	chr5:106892843-106893207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106892845..106895575-chr5:106898409..106900796,2	MCF-7	breast:
2	chr5:106878075..106880996-chr5:106890627..106894007,3	MCF-7	breast:
3	chr5:106893133..106894878-chr5:107007816..107009967,2	MCF-7	breast:
4	chr5:106892887..106893840-chr5:106907159..106908105,3	MCF-7	breast:
5	chr5:106891290..106894903-chr5:107005448..107008680,4	MCF-7	breast:
6	chr5:106892732..106894780-chr5:106905929..106907820,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184349	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553781748	chr5:106892852-106892853	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs576804107	chr5:106892854-106892855	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs352606	chr5:106892857-106892858	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562858030	chr5:106892859-106892860	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531990642	chr5:106892879-106892880	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs76882270	chr5:106892885-106892886	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs370071076	chr5:106892887-106892888	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs372685026	chr5:106892920-106892921	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs181860677	chr5:106892926-106892927	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547500074	chr5:106892936-106892937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs147507196	chr5:106892938-106892939	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs532982423	chr5:106892960-106892961	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553060090	chr5:106892969-106892970	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368433355	chr5:106893029-106893030	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376527175	chr5:106893052-106893053	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs569862245	chr5:106893061-106893062	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535734947	chr5:106893065-106893066	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185119092	chr5:106893071-106893072	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565849722	chr5:106893096-106893097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs352605	chr5:106893142-106893143	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs553869942	chr5:106893145-106893146	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576231602	chr5:106893148-106893149	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543569019	chr5:106893168-106893169	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140028734	chr5:106893191-106893192	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534570705	chr5:106893197-106893198	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545801185	chr5:106893200-106893201	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145426674	chr5:106893201-106893202	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106879000-106893000	Weak transcription	Psoas Muscle	Psoas
2	chr5:106879000-106899200	Weak transcription	Fetal Stomach	stomach
3	chr5:106881600-106899600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:106884600-106896400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:106885600-106893000	Weak transcription	Esophagus	oesophagus
6	chr5:106885600-106893200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:106885600-106894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:106885600-106896400	Weak transcription	Right Atrium	heart
9	chr5:106887200-106899400	Weak transcription	Fetal Lung	lung
10	chr5:106887200-106906800	Weak transcription	Right Ventricle	heart
11	chr5:106889400-106893000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:106889400-106903000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr5:106890000-106895000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:106890000-106895000	Enhancers	NHEK	skin
15	chr5:106890000-106898000	Enhancers	Fetal Heart	heart
16	chr5:106890200-106893600	Enhancers	HSMM	muscle
17	chr5:106890200-106900800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr5:106890400-106893200	Enhancers	Placenta	Placenta
19	chr5:106890400-106893400	Enhancers	Osteobl	bone
20	chr5:106890400-106893600	Enhancers	NH-A	brain
21	chr5:106890400-106893800	Enhancers	NHDF-Ad	bronchial
22	chr5:106890400-106894000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:106890400-106894800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:106890400-106895000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:106890600-106893000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:106890600-106893400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:106891000-106899800	Weak transcription	Aorta	Aorta
28	chr5:106891200-106893800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:106891200-106893800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:106891400-106893200	Weak transcription	Fetal Kidney	kidney
31	chr5:106891400-106895000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:106891400-106895000	Enhancers	HMEC	breast
33	chr5:106892000-106893000	Weak transcription	NHLF	lung
34	chr5:106892000-106901800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:106892200-106895600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:106892400-106893000	Enhancers	Hela-S3	cervix
37	chr5:106892600-106893400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:106892600-106893400	Enhancers	Liver	Liver
39	chr5:106892600-106893400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr5:106892600-106893600	Flanking Active TSS	A549	lung
41	chr5:106892600-106893800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr5:106892600-106894000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr5:106892600-106894400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:106892600-106895000	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr5:106892600-106895400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:106892600-106895400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:106892800-106893000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:106892800-106893200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr5:106892800-106893200	Enhancers	Left Ventricle	heart
50	chr5:106892800-106893200	Enhancers	Placenta Amnion	Placenta Amnion

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