Variant report

Variant	esv3398438
Chromosome Location	chr5:106926753-106928901
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	chr5:106914216..106916170-chr5:106926052..106928145,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541767475	chr5:106926759-106926760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553586454	chr5:106926841-106926842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71575449	chr5:106926876-106926877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573369317	chr5:106926898-106926899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs72660776	chr5:106927000-106927001	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558416884	chr5:106927042-106927043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142453080	chr5:106927122-106927123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs59767200	chr5:106927179-106927180	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs560881209	chr5:106927193-106927194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61466405	chr5:106927219-106927220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6879546	chr5:106927252-106927253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs368219731	chr5:106927255-106927256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560354652	chr5:106927263-106927264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532246874	chr5:106927320-106927321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372131451	chr5:106927404-106927405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565269812	chr5:106927436-106927437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530927673	chr5:106927454-106927455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6898233	chr5:106927464-106927465	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs202084347	chr5:106927521-106927522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189496564	chr5:106927529-106927530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529998042	chr5:106927531-106927532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187355	chr5:106927545-106927546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10051535	chr5:106927583-106927584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200879646	chr5:106927584-106927585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181841460	chr5:106927586-106927587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201856175	chr5:106927592-106927593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189817	chr5:106927593-106927594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28736631	chr5:106927613-106927614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28405828	chr5:106927615-106927616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376406471	chr5:106927625-106927626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370250535	chr5:106927626-106927627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28483732	chr5:106927633-106927634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28625681	chr5:106927634-106927635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12186459	chr5:106927641-106927642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10053164	chr5:106927644-106927645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7446980	chr5:106927645-106927646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28440784	chr5:106927651-106927652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10051597	chr5:106927652-106927653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186213974	chr5:106927653-106927654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28609350	chr5:106927658-106927659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28595767	chr5:106927659-106927660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7446202	chr5:106927660-106927661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7446983	chr5:106927661-106927662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs191360446	chr5:106927666-106927667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13155953	chr5:106927668-106927669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7446203	chr5:106927669-106927670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7446984	chr5:106927670-106927671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs58029427	chr5:106927676-106927677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55716735	chr5:106927677-106927678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10479402	chr5:106927678-106927679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106913600-106928800	Weak transcription	Right Ventricle	heart
2	chr5:106914800-106928200	Weak transcription	Left Ventricle	heart
3	chr5:106915200-106929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:106915600-106928200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:106917000-106929200	Weak transcription	HMEC	breast
6	chr5:106917400-106928000	Weak transcription	HSMMtube	muscle
7	chr5:106917600-106928200	Weak transcription	A549	lung
8	chr5:106917800-106928600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr5:106919800-106928200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:106920800-106928400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:106924000-106926800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:106924000-106928000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:106924800-106928400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:106925000-106928200	Weak transcription	Fetal Muscle Leg	muscle
15	chr5:106925000-106928600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:106926000-106928200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:106926000-106928600	Weak transcription	Fetal Stomach	stomach
18	chr5:106926000-106931400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:106926000-106941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:106926200-106928400	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr5:106926400-106928800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:106926600-106928200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:106926800-106930000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:106927000-106927200	Enhancers	Fetal Heart	heart
25	chr5:106927000-106927200	Enhancers	GM12878-XiMat	blood
26	chr5:106927200-106928000	Weak transcription	GM12878-XiMat	blood
27	chr5:106927200-106928200	Weak transcription	Fetal Heart	heart
28	chr5:106927200-106930000	Weak transcription	Esophagus	oesophagus
29	chr5:106927800-106930000	Weak transcription	Stomach Mucosa	stomach
30	chr5:106928000-106928600	Enhancers	GM12878-XiMat	blood
31	chr5:106928000-106929200	Enhancers	HSMMtube	muscle
32	chr5:106928000-106930600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:106928000-106931200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:106928200-106928600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:106928200-106928800	Enhancers	Fetal Brain Male	brain
36	chr5:106928200-106929000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:106928200-106929000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:106928200-106929000	Enhancers	Brain Anterior Caudate	brain
39	chr5:106928200-106929000	Enhancers	Brain Substantia Nigra	brain
40	chr5:106928200-106929200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:106928200-106929200	Enhancers	Fetal Brain Female	brain
42	chr5:106928200-106929400	Enhancers	Brain Angular Gyrus	brain
43	chr5:106928200-106929400	Genic enhancers	A549	lung
44	chr5:106928200-106930200	Enhancers	Brain Cingulate Gyrus	brain
45	chr5:106928200-106930200	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:106928200-106930200	Enhancers	Fetal Muscle Leg	muscle
47	chr5:106928200-106930600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:106928200-106930600	Enhancers	Left Ventricle	heart
49	chr5:106928200-106930800	Enhancers	Fetal Heart	heart
50	chr5:106928200-106931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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