Variant report

Variant	esv3425842
Chromosome Location	chr5:105694102-105714521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:105690890..105692893-chr5:105701188..105703588,2	MCF-7	breast:
2	chr5:105695067..105695819-chr7:152358250..152358853,2	MCF-7	breast:
3	chr5:105683065..105685836-chr5:105691749..105694214,2	MCF-7	breast:
4	chr5:105577079..105577725-chr5:105702519..105703290,2	MCF-7	breast:

Extended variants
information (count: 387 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs36069787	chr5:105694173-105694174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535527111	chr5:105699010-105699011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375048080	chr5:105699013-105699014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555206916	chr5:105699058-105699059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71592340	chr5:105699077-105699078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572184613	chr5:105699127-105699128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187326886	chr5:105699175-105699176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557948604	chr5:105699180-105699181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs193025318	chr5:105699304-105699305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543787029	chr5:105699321-105699322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562859793	chr5:105699337-105699338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531772693	chr5:105699400-105699401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542285894	chr5:105699449-105699450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547285655	chr5:105699450-105699451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183431466	chr5:105699471-105699472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188927304	chr5:105699575-105699576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12520788	chr5:105699602-105699603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs138149697	chr5:105699611-105699612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73194663	chr5:105699614-105699615	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73777244	chr5:105699648-105699649	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550104508	chr5:105699664-105699665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73194665	chr5:105699684-105699685	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs535134139	chr5:105699695-105699696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193137150	chr5:105699709-105699710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555363174	chr5:105699711-105699712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373754959	chr5:105699713-105699714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565605436	chr5:105699781-105699782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534718487	chr5:105699826-105699827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529260659	chr5:105699834-105699835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140834135	chr5:105699841-105699842	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12520822	chr5:105699867-105699868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs543724416	chr5:105699885-105699886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12513725	chr5:105699908-105699909	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs377357527	chr5:105699917-105699918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541821777	chr5:105699926-105699927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150101405	chr5:105700031-105700032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183710551	chr5:105700037-105700038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138479198	chr5:105700054-105700055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149235172	chr5:105700067-105700068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146191937	chr5:105700099-105700100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545256860	chr5:105700109-105700110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188472408	chr5:105700112-105700113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191750925	chr5:105700120-105700121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529607433	chr5:105700129-105700130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548662167	chr5:105700132-105700133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138479666	chr5:105700135-105700136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34078071	chr5:105700147-105700148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs534822294	chr5:105700148-105700149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375736280	chr5:105700204-105700205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372499509	chr5:105700238-105700239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105692800-105694200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr5:105699000-105700000	Enhancers	HMEC	breast
3	chr5:105699400-105699600	Enhancers	NHEK	skin
4	chr5:105699800-105703000	Weak transcription	NHEK	skin
5	chr5:105700000-105703200	Weak transcription	HMEC	breast
6	chr5:105703000-105703600	Enhancers	NHEK	skin
7	chr5:105703200-105703400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:105703200-105704000	Enhancers	HMEC	breast
9	chr5:105703400-105706800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:105704000-105704200	Active TSS	Gastric	stomach
11	chr5:105710800-105711200	Enhancers	HMEC	breast
12	chr5:105711000-105713000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:105711600-105713000	Enhancers	Osteobl	bone
14	chr5:105712000-105712600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:105712000-105712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:105712000-105712800	Enhancers	HUVEC	blood vessel
17	chr5:105712000-105713000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:105712000-105713000	Enhancers	NH-A	brain
19	chr5:105712000-105713000	Enhancers	NHDF-Ad	bronchial
20	chr5:105712200-105712600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr5:105712200-105712800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:105712200-105713000	Enhancers	NHEK	skin
23	chr5:105712400-105713000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:105712600-105713000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:105712800-105716600	Weak transcription	HUVEC	blood vessel
26	chr5:105713000-105716600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:105713000-105716600	Weak transcription	NH-A	brain
28	chr5:105713000-105716600	Weak transcription	NHEK	skin

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