Variant report

Variant	esv2763462
Chromosome Location	chr5:68295338-68307023
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:67582347..67582885-chr5:68303202..68303885,2	MCF-7	breast:
2	chr5:68180800..68181347-chr5:68303692..68304346,2	MCF-7	breast:
3	chr5:68303714..68306430-chr5:68307322..68309194,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC125-4	chr5:68297895-68297899	NONHSAT101876
2	lnc-CCDC125-14	chr5:68301385-68301502	ucscGeneNc_uc003jvf_1
3	lnc-CCDC125-14	chr5:68300126-68300527	ucscGeneNc_uc003jvf_1
4	lnc-CCDC125-14	chr5:68301696-68302660	ucscGeneNc_uc003jvf_1

No data

Extended variants
information (count: 388 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:388 , 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	rs375655507	chr5:68295473-68295474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs185030981	chr5:68295474-68295475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553079059	chr5:68295492-68295493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571371019	chr5:68295516-68295517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147749174	chr5:68295551-68295552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556722772	chr5:68295553-68295554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542898434	chr5:68295563-68295564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3138743	chr5:68295564-68295565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs371057529	chr5:68295565-68295566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375010533	chr5:68295566-68295567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs58742138	chr5:68295596-68295597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62354499	chr5:68295602-68295603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369890433	chr5:68295625-68295626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192812055	chr5:68295669-68295670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374657807	chr5:68295677-68295678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6888622	chr5:68295686-68295687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576219155	chr5:68295731-68295732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113471842	chr5:68295745-68295746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564991167	chr5:68295770-68295771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6888650	chr5:68295773-68295774	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs11949644	chr5:68295785-68295786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562785970	chr5:68295796-68295797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530810385	chr5:68295804-68295805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528943730	chr5:68295806-68295807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189506999	chr5:68295820-68295821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567589704	chr5:68295828-68295829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs59441940	chr5:68295843-68295844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376385549	chr5:68295902-68295903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs59351555	chr5:68295914-68295915	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs145340357	chr5:68295916-68295917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181497473	chr5:68295947-68295948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574535805	chr5:68295975-68295976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs184619642	chr5:68295976-68295977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552486972	chr5:68295977-68295978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374564406	chr5:68295979-68295980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568796065	chr5:68296035-68296036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563299500	chr5:68296086-68296087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554813525	chr5:68296088-68296089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55657218	chr5:68296105-68296106	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs534086732	chr5:68296121-68296122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558764508	chr5:68296146-68296147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577262776	chr5:68296187-68296188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531238122	chr5:68296245-68296246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377134083	chr5:68296289-68296290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562882994	chr5:68296358-68296359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189183676	chr5:68296365-68296366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542250023	chr5:68296377-68296378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561128212	chr5:68296393-68296394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7732834	chr5:68296445-68296446	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs75441733	chr5:68296453-68296454	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68292000-68296200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:68296200-68298000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr5:68298000-68301600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:68300200-68300800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:68300400-68300600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:68300400-68300600	Enhancers	Fetal Lung	lung
7	chr5:68300400-68301000	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr5:68300600-68302800	Weak transcription	Fetal Lung	lung
9	chr5:68301600-68303000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:68302400-68303600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:68302800-68303400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:68302800-68303400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:68302800-68303400	Enhancers	Fetal Lung	lung
14	chr5:68303000-68303200	Bivalent Enhancer	Fetal Brain Female	brain
15	chr5:68303000-68303600	Enhancers	Brain Hippocampus Middle	brain
16	chr5:68303000-68303800	Enhancers	Brain Cingulate Gyrus	brain
17	chr5:68305000-68305400	Enhancers	Pancreas	Pancrea
18	chr5:68305400-68305800	Weak transcription	Pancreas	Pancrea
19	chr5:68305800-68306000	Enhancers	Pancreas	Pancrea
20	chr5:68306000-68307000	Weak transcription	Pancreas	Pancrea
21	chr5:68307000-68307400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:68307000-68308000	Enhancers	Pancreas	Pancrea

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