Variant report

Variant	esv3354945
Chromosome Location	chr5:112669203-112670551
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112570824..112573255-chr5:112670003..112671538,2	MCF-7	breast:
2	chr5:112670061..112672629-chr5:112676189..112678751,2	K562	blood:
3	chr5:112670295..112671013-chr5:112846037..112846592,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140642569	chr5:112669251-112669252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539279196	chr5:112669271-112669272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181914145	chr5:112669343-112669344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186291235	chr5:112669344-112669345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35099101	chr5:112669382-112669383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35200337	chr5:112669398-112669399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191898094	chr5:112669414-112669415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114474305	chr5:112669428-112669429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564193022	chr5:112669448-112669449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369158246	chr5:112669486-112669487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56032209	chr5:112669488-112669489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372065713	chr5:112669490-112669491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201234572	chr5:112669491-112669492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371343807	chr5:112669499-112669500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375264837	chr5:112669501-112669502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs56013727	chr5:112669509-112669510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369464326	chr5:112669511-112669512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528146533	chr5:112669523-112669524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139134169	chr5:112669525-112669526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71687516	chr5:112669526-112669527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373536964	chr5:112669527-112669528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371004683	chr5:112669531-112669532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372077130	chr5:112669533-112669534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35658668	chr5:112669534-112669535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10071644	chr5:112669535-112669536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542205922	chr5:112669540-112669541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368087327	chr5:112669541-112669542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375781949	chr5:112669542-112669543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56080696	chr5:112669543-112669544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376365514	chr5:112669545-112669546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113932400	chr5:112669549-112669550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58861094	chr5:112669551-112669552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371610854	chr5:112669559-112669560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10078506	chr5:112669560-112669561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56209905	chr5:112669561-112669562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376070135	chr5:112669568-112669569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367793791	chr5:112669569-112669570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371315739	chr5:112669570-112669571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200009545	chr5:112669571-112669572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200577924	chr5:112669573-112669574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201395383	chr5:112669574-112669575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13186350	chr5:112669576-112669577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61485629	chr5:112669579-112669580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535364206	chr5:112669580-112669581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13186727	chr5:112669582-112669583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs56673193	chr5:112669585-112669586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13168741	chr5:112669586-112669587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369218606	chr5:112669589-112669590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13186610	chr5:112669594-112669595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372486079	chr5:112669601-112669602	Weak transcription	n/a	n/a	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112653000-112673600	Weak transcription	Fetal Kidney	kidney
2	chr5:112666400-112670600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:112666400-112670600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:112666800-112670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:112667000-112670000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:112667000-112672400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:112667000-112672800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:112667000-112674000	Weak transcription	Right Atrium	heart
10	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
11	chr5:112667200-112670600	Weak transcription	Dnd41	blood
12	chr5:112667200-112671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:112667200-112672000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:112667200-112672400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:112667200-112672400	Weak transcription	NH-A	brain
16	chr5:112667200-112672800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112667200-112672800	Weak transcription	Fetal Stomach	stomach
18	chr5:112667200-112678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:112667200-112678800	Weak transcription	HMEC	breast
20	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:112667200-112680600	Weak transcription	NHEK	skin
22	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
23	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
24	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:112667600-112672000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:112667600-112672000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:112668600-112669400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:112668600-112669400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr5:112668800-112669400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:112669200-112669400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr5:112670200-112670400	Enhancers	Primary T cells fromperipheralblood	blood

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