Variant report

Variant	esv2763493
Chromosome Location	chr5:116826714-116841438
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	chr5:116821234..116823544-chr5:116829349..116832247,2	MCF-7	breast:
2	chr5:116791346..116791870-chr5:116830163..116830664,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COMMD10-12	chr5:116835496-116835532	l_3001_chr5:116779094-116842761_testes

Extended variants
information (count: 574 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1428063	chr5:116826714-116826715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190650138	chr5:116826742-116826743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112102628	chr5:116826790-116826791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564716298	chr5:116826791-116826792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528036677	chr5:116826825-116826826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548086665	chr5:116826844-116826845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567890147	chr5:116826869-116826870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146260260	chr5:116826885-116826886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575865531	chr5:116826976-116826977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570097030	chr5:116827056-116827057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11345303	chr5:116827106-116827107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397752997	chr5:116827116-116827117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538750176	chr5:116827120-116827121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558957835	chr5:116827133-116827134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7379810	chr5:116827146-116827147	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs372358726	chr5:116827160-116827161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533869368	chr5:116827288-116827289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553615976	chr5:116827346-116827347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12332389	chr5:116827348-116827349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34543248	chr5:116827438-116827439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555992733	chr5:116827483-116827484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34183738	chr5:116827523-116827524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113298751	chr5:116827589-116827590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113372630	chr5:116827602-116827603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113685511	chr5:116827611-116827612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527260364	chr5:116827621-116827622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199855383	chr5:116827633-116827634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561521856	chr5:116827776-116827777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530329807	chr5:116827810-116827811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62380130	chr5:116827866-116827867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs36155584	chr5:116827868-116827869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs36142536	chr5:116827872-116827873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs552375692	chr5:116827873-116827874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36135116	chr5:116827909-116827910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181638118	chr5:116827998-116827999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544580334	chr5:116828031-116828032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553653198	chr5:116828063-116828064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567183164	chr5:116828072-116828073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62380131	chr5:116828102-116828103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556369913	chr5:116828127-116828128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576132642	chr5:116828145-116828146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545121428	chr5:116828154-116828155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11744679	chr5:116828160-116828161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187272068	chr5:116828172-116828173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540988216	chr5:116828206-116828207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370081889	chr5:116828229-116828230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560858972	chr5:116828230-116828231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575260418	chr5:116828269-116828270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371877093	chr5:116828282-116828283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563941236	chr5:116828308-116828309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
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
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:116825200-116829000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:116825200-116829400	Weak transcription	NHDF-Ad	bronchial
3	chr5:116829000-116829200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:116829200-116829600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:116829200-116830200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:116829400-116830000	Enhancers	Adipose Nuclei	Adipose
7	chr5:116829400-116834000	Enhancers	NHDF-Ad	bronchial
8	chr5:116829600-116830000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:116829600-116830800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:116829800-116830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:116830000-116831600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:116830000-116833200	Weak transcription	Adipose Nuclei	Adipose
13	chr5:116830200-116831000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:116831000-116832600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:116831600-116832000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:116832000-116834200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:116832600-116833000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:116833000-116833400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:116833200-116834200	Enhancers	Adipose Nuclei	Adipose
20	chr5:116833400-116833600	Enhancers	Ovary	ovary
21	chr5:116833400-116833800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:116833800-116834200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:116834000-116839800	Weak transcription	NHDF-Ad	bronchial
24	chr5:116834200-116834600	Weak transcription	Adipose Nuclei	Adipose
25	chr5:116834200-116839600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:116834600-116835400	Enhancers	Adipose Nuclei	Adipose
27	chr5:116835200-116835600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:116839600-116840600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:116839800-116841000	Enhancers	NHDF-Ad	bronchial
30	chr5:116840000-116840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:116840200-116840800	Enhancers	Fetal Kidney	kidney
32	chr5:116841400-116842200	Enhancers	Fetal Muscle Leg	muscle

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