Variant report

Variant	esv2763468
Chromosome Location	chr5:89510692-89535449
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	chr5:89518716..89521688-chr5:89521836..89523826,2	K562	blood:
2	chr5:89518716..89521688-chr5:89521836..89523826,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CETN3-3	chr5:89530743-89530782	ENSG00000248555
2	lnc-CETN3-3	chr5:89531246-89531352	ENSG00000248555

Extended variants
information (count: 662 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187575489	chr5:89516005-89516006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566034417	chr5:89516034-89516035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs111441302	chr5:89516067-89516068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs141170255	chr5:89516104-89516105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575245930	chr5:89516129-89516130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537709380	chr5:89516141-89516142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192814137	chr5:89516188-89516189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577325687	chr5:89516216-89516217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183786548	chr5:89516247-89516248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76411495	chr5:89516266-89516267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371428068	chr5:89516304-89516305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112238238	chr5:89516316-89516317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572023872	chr5:89516352-89516353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564481474	chr5:89516365-89516366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540659895	chr5:89516387-89516388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115475075	chr5:89516526-89516527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189194913	chr5:89516528-89516529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533475224	chr5:89516543-89516544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550410934	chr5:89516544-89516545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549618269	chr5:89516580-89516581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75430690	chr5:89516672-89516673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79201113	chr5:89516734-89516735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192025539	chr5:89516744-89516745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552085500	chr5:89516747-89516748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566195003	chr5:89516750-89516751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535110320	chr5:89516793-89516794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529489661	chr5:89516811-89516812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548621652	chr5:89516831-89516832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114223219	chr5:89516837-89516838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372182298	chr5:89516909-89516910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568415328	chr5:89516913-89516914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150743602	chr5:89516926-89516927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565469562	chr5:89516929-89516930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571051673	chr5:89516934-89516935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540051791	chr5:89516941-89516942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553274885	chr5:89516977-89516978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4916791	chr5:89517013-89517014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs540696911	chr5:89517024-89517025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554147187	chr5:89517110-89517111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs55771963	chr5:89517128-89517129	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543005509	chr5:89517170-89517171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs563649299	chr5:89517209-89517210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184624330	chr5:89517256-89517257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10035522	chr5:89517262-89517263	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs188486535	chr5:89517316-89517317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372627448	chr5:89517390-89517391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139069326	chr5:89517626-89517627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528596902	chr5:89517628-89517629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541461758	chr5:89517629-89517630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557490635	chr5:89517646-89517647	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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89516000-89518600	Enhancers	HUVEC	blood vessel
2	chr5:89517400-89517800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:89517600-89518200	Enhancers	NH-A	brain
4	chr5:89517600-89518400	Enhancers	HSMMtube	muscle
5	chr5:89517600-89518600	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:89518000-89518400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:89518600-89522000	Weak transcription	HUVEC	blood vessel
8	chr5:89522000-89522600	Enhancers	HUVEC	blood vessel
9	chr5:89522000-89522800	Enhancers	Fetal Brain Female	brain
10	chr5:89522000-89523600	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr5:89522000-89524200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:89522400-89522600	Enhancers	Aorta	Aorta
13	chr5:89522400-89522800	Enhancers	Esophagus	oesophagus
14	chr5:89522400-89523600	Enhancers	Colon Smooth Muscle	Colon
15	chr5:89522400-89523800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr5:89522400-89523800	Enhancers	Brain Germinal Matrix	brain
17	chr5:89522400-89523800	Enhancers	Fetal Muscle Leg	muscle
18	chr5:89522400-89523800	Enhancers	GM12878-XiMat	blood
19	chr5:89522600-89525400	Weak transcription	Aorta	Aorta
20	chr5:89522800-89523200	Weak transcription	Esophagus	oesophagus
21	chr5:89523200-89523800	Enhancers	Colonic Mucosa	Colon
22	chr5:89523200-89523800	Enhancers	Esophagus	oesophagus
23	chr5:89523200-89523800	Enhancers	Ovary	ovary
24	chr5:89523200-89523800	Enhancers	Psoas Muscle	Psoas
25	chr5:89523200-89523800	Enhancers	Right Atrium	heart
26	chr5:89523600-89524000	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr5:89523600-89524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:89523600-89524200	Enhancers	Fetal Kidney	kidney
29	chr5:89523600-89524600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:89523800-89525400	Weak transcription	Right Atrium	heart
31	chr5:89523800-89525800	Weak transcription	Brain Germinal Matrix	brain
32	chr5:89523800-89527600	Weak transcription	Ovary	ovary
33	chr5:89524000-89524200	Enhancers	Colon Smooth Muscle	Colon
34	chr5:89524600-89525000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:89525000-89525400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:89525400-89525600	Enhancers	Right Atrium	heart
37	chr5:89525400-89526200	Enhancers	Aorta	Aorta
38	chr5:89525800-89526400	Enhancers	Brain Germinal Matrix	brain
39	chr5:89526200-89527600	Weak transcription	Aorta	Aorta
40	chr5:89527600-89528000	Active TSS	Aorta	Aorta
41	chr5:89527600-89528200	Active TSS	Ovary	ovary
42	chr5:89528000-89528800	Weak transcription	Aorta	Aorta
43	chr5:89528800-89529800	Active TSS	Aorta	Aorta
44	chr5:89529400-89530000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:89529600-89529800	Flanking Active TSS	HSMMtube	muscle
46	chr5:89529800-89560800	Weak transcription	Aorta	Aorta

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