Variant report

Variant	esv3383423
Chromosome Location	chr5:91222396-91225694
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	chr5:91224612..91225895-chr5:91517942..91518899,6	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376541532	chr5:91222400-91222401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568570266	chr5:91222409-91222410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143915286	chr5:91222583-91222584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557370129	chr5:91222626-91222627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs59343330	chr5:91222632-91222633	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574457124	chr5:91222635-91222636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558441340	chr5:91222636-91222637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571879614	chr5:91222655-91222656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561752788	chr5:91222663-91222664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs79594453	chr5:91222672-91222673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185672370	chr5:91222769-91222770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34349278	chr5:91222782-91222783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150640174	chr5:91222805-91222806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543047572	chr5:91222836-91222837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562767247	chr5:91223002-91223003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563248351	chr5:91223014-91223015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190089160	chr5:91223060-91223061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376281255	chr5:91223068-91223069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560113521	chr5:91223089-91223090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73129582	chr5:91223106-91223107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77913706	chr5:91223139-91223140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77915074	chr5:91223147-91223148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35834658	chr5:91223164-91223165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568455226	chr5:91223192-91223193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530985456	chr5:91223231-91223232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550801972	chr5:91223241-91223242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570476309	chr5:91223348-91223349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201896281	chr5:91223415-91223416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149820251	chr5:91223423-91223424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76792426	chr5:91223673-91223674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558408305	chr5:91223674-91223675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182685944	chr5:91223687-91223688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534508155	chr5:91223776-91223777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563709568	chr5:91223778-91223779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77266992	chr5:91223808-91223809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547756062	chr5:91223898-91223899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554795898	chr5:91223939-91223940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574549585	chr5:91223952-91223953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187506084	chr5:91223966-91223967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543465843	chr5:91223968-91223969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557109937	chr5:91223971-91223972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191089205	chr5:91224029-91224030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183806676	chr5:91224085-91224086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570761534	chr5:91224086-91224087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560076262	chr5:91224095-91224096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528837100	chr5:91224120-91224121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189156924	chr5:91224188-91224189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376862615	chr5:91224349-91224350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562265230	chr5:91224368-91224369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531026408	chr5:91224402-91224403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19592390	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:91211000-91237600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:91221600-91224000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:91224000-91225600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:91224200-91225200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:91224200-91225200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:91224200-91225200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:91224400-91225000	Enhancers	NH-A	brain
8	chr5:91224400-91225000	Enhancers	NHDF-Ad	bronchial
9	chr5:91224400-91225200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:91224400-91225200	Enhancers	Osteobl	bone
11	chr5:91224600-91224800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:91224600-91225800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:91225000-91226200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:91225200-91227400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:91225400-91225600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:91225400-91226000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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