Variant report

Variant	nsv880957
Chromosome Location	chr5:52418582-52443231
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52405327..52407200-chr5:52434350..52436030,2	K562	blood:
2	chr5:52421415..52423217-chr5:52426040..52428120,3	K562	blood:
3	chr5:52423957..52426237-chr5:52429970..52432599,2	K562	blood:
4	chr5:52421415..52423217-chr5:52426040..52428120,3	K562	blood:
5	chr5:52423957..52426237-chr5:52429970..52432599,2	K562	blood:
6	chr5:52404135..52405879-chr5:52416509..52418894,2	K562	blood:
7	chr5:52419531..52420160-chr5:52497344..52497892,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ITGA2-3	chr5:52441400-52441735	l_2918_chr5:52441399-52446721_testes

No data

Variant related genes	Relation type
ENSG00000247796	chromatin interactions
ENSG00000164172	chromatin interactions

Extended variants
information (count: 636 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:636 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs30099	chr5:52418582-52418583	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568217889	chr5:52418630-52418631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539879754	chr5:52418647-52418648	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529191036	chr5:52418792-52418793	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550812784	chr5:52418799-52418800	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs568917027	chr5:52418817-52418818	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs193231297	chr5:52418827-52418828	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138010403	chr5:52418898-52418899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566614095	chr5:52418902-52418903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534429775	chr5:52418909-52418910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555702554	chr5:52418945-52418946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574141105	chr5:52418955-52418956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532127237	chr5:52418963-52418964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550601307	chr5:52419030-52419031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538163358	chr5:52419063-52419064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556768589	chr5:52419073-52419074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs921030	chr5:52419096-52419097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377589422	chr5:52419107-52419108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111357004	chr5:52419218-52419219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146037554	chr5:52419242-52419243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572996540	chr5:52419290-52419291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs25828	chr5:52419325-52419326	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540289517	chr5:52419343-52419344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561744239	chr5:52419392-52419393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184976323	chr5:52419426-52419427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186634307	chr5:52419427-52419428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16880908	chr5:52419460-52419461	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs533191093	chr5:52419522-52419523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376185498	chr5:52419537-52419538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76604736	chr5:52419539-52419540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534047905	chr5:52419570-52419571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549092487	chr5:52419585-52419586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116220316	chr5:52419594-52419595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371425331	chr5:52419605-52419606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374652944	chr5:52419608-52419609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs27406	chr5:52419613-52419614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs191445501	chr5:52419625-52419626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs578246054	chr5:52419685-52419686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76436820	chr5:52419711-52419712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557803760	chr5:52419736-52419737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117253904	chr5:52419762-52419763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533495957	chr5:52419845-52419846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539955968	chr5:52419868-52419869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs30727	chr5:52419944-52419945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs573797098	chr5:52419975-52419976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111633992	chr5:52420011-52420012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562474298	chr5:52420057-52420058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556279244	chr5:52420070-52420071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2059160	chr5:52420098-52420099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs374106278	chr5:52420127-52420128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52406400-52419000	Weak transcription	Left Ventricle	heart
2	chr5:52406800-52422000	Weak transcription	NHLF	lung
3	chr5:52406800-52422200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:52407000-52418800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:52407000-52418800	Weak transcription	NHEK	skin
6	chr5:52407000-52419000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:52407200-52418800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:52410400-52421800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:52418800-52419400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:52418800-52419400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:52418800-52419400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:52418800-52419400	Enhancers	NHEK	skin
13	chr5:52419000-52419200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:52419000-52419200	Enhancers	Left Ventricle	heart
15	chr5:52419000-52419400	Enhancers	HMEC	breast
16	chr5:52419200-52422200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:52419400-52421800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:52419400-52421800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:52419400-52422000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:52419400-52422000	Weak transcription	NHEK	skin
21	chr5:52419400-52422200	Weak transcription	HMEC	breast
22	chr5:52421000-52426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr5:52421800-52422800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:52421800-52423200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:52421800-52423400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:52422000-52422800	Enhancers	NHLF	lung
27	chr5:52422000-52423000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:52422000-52423000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:52422000-52423000	Enhancers	HSMM	muscle
30	chr5:52422000-52423000	Enhancers	NH-A	brain
31	chr5:52422000-52423000	Enhancers	NHEK	skin
32	chr5:52422000-52423200	Enhancers	NHDF-Ad	bronchial
33	chr5:52422000-52423200	Enhancers	Osteobl	bone
34	chr5:52422200-52422800	Enhancers	HSMMtube	muscle
35	chr5:52422200-52423000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:52422200-52423000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:52422200-52423000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:52422200-52423000	Enhancers	HMEC	breast
39	chr5:52422200-52423400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr5:52422400-52422800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:52422400-52422800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:52422600-52423000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:52422800-52425400	Weak transcription	NHLF	lung
44	chr5:52422800-52425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:52422800-52425800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr5:52423000-52426200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:52423000-52426200	Weak transcription	NH-A	brain
48	chr5:52423000-52426200	Weak transcription	NHEK	skin
49	chr5:52423200-52425400	Weak transcription	NHDF-Ad	bronchial
50	chr5:52423200-52425600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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