Variant report

Variant	esv5974
Chromosome Location	chr10:53984049-54034016
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:2)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:54008362..54009880-chr10:54016820..54018368,2	K562	blood:
2	chr10:54008362..54009880-chr10:54016820..54018368,2	K562	blood:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MBL2-5	chr10:54001867-54002001	ENSG00000236671.3
2	lnc-MBL2-5	chr10:54001867-54002001	NONHSAT013418
3	lnc-MBL2-5	chr10:53990157-53991157	NONHSAT013418
4	lnc-MBL2-5	chr10:54013131-54013200	ENSG00000236671.3
5	lnc-MBL2-5	chr10:53990519-53991157	ENSG00000236671
6	lnc-MBL2-5	chr10:53990772-53990881	NONHSAT013417
7	lnc-MBL2-5	chr10:53986749-53986907	NONHSAT013417
8	lnc-MBL2-5	chr10:54013131-54013200	ENSG00000236671
9	lnc-MBL2-5	chr10:54011725-54012596	ENSG00000236671
10	lnc-MBL2-5	chr10:53986798-53986894	l_313_chr10:53986797-54185097_lymphNode
11	lnc-MBL2-5	chr10:54001867-54002001	ENSG00000236671
12	lnc-MBL2-5	chr10:53990502-53991157	ENSG00000236671.3
13	lnc-MBL2-5	chr10:53990788-53990881	l_313_chr10:53986797-54185097_lymphNode
14	lnc-MBL2-5	chr10:54011725-54012596	ENSG00000236671.3

No data

Variant related genes	Relation type
ZNF280B	miRNA target sites

Extended variants
information (count: 1495 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1495 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568105078	chr10:53984097-53984098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533768143	chr10:53984159-53984160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201023664	chr10:53984167-53984168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs56219653	chr10:53984168-53984169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs199804907	chr10:53984171-53984172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557360242	chr10:53984187-53984188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148005669	chr10:53984194-53984195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556455413	chr10:53984205-53984206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576560536	chr10:53984225-53984226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12259238	chr10:53984261-53984262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562033163	chr10:53984308-53984309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12774162	chr10:53984309-53984310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138454428	chr10:53984320-53984321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144006687	chr10:53984321-53984322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71500387	chr10:53984325-53984326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs201161204	chr10:53984339-53984340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs57508591	chr10:53984342-53984343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs60386263	chr10:53984347-53984348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs57202857	chr10:53984350-53984351	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201922196	chr10:53984355-53984356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531516625	chr10:53984491-53984492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs548550846	chr10:53984542-53984543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202000140	chr10:53984569-53984570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141047999	chr10:53984592-53984593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149349683	chr10:53984596-53984597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113341787	chr10:53984598-53984599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112005206	chr10:53984600-53984601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375252150	chr10:53984636-53984637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553770844	chr10:53984649-53984650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144700848	chr10:53984652-53984653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184917800	chr10:53984691-53984692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556210116	chr10:53984692-53984693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188229123	chr10:53984732-53984733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192510797	chr10:53984764-53984765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148509058	chr10:53984823-53984824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535113250	chr10:53984838-53984839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572361095	chr10:53984874-53984875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569286398	chr10:53984892-53984893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541042636	chr10:53984927-53984928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184490332	chr10:53984960-53984961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188137246	chr10:53984981-53984982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543586270	chr10:53985003-53985004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556971239	chr10:53985032-53985033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142856737	chr10:53985095-53985096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs181976471	chr10:53985138-53985139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184806007	chr10:53985140-53985141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs568379651	chr10:53985245-53985246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527558347	chr10:53985284-53985285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371721517	chr10:53985318-53985319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146582703	chr10:53985321-53985322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Intellectual disability	21948486	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Cancer	20164919	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:53976600-53986000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:53977000-53992400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr10:53982000-53986000	Weak transcription	Aorta	Aorta
4	chr10:53982800-53985400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr10:53982800-53985800	Weak transcription	NHDF-Ad	bronchial
6	chr10:53985400-53987800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:53985800-53986400	Enhancers	Osteobl	bone
8	chr10:53985800-53986600	Enhancers	NHLF	lung
9	chr10:53985800-53986800	Enhancers	NHDF-Ad	bronchial
10	chr10:53986000-53986200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:53986000-53986200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:53986000-53986600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr10:53986000-53986800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:53986000-53986800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr10:53986000-53986800	Enhancers	HMEC	breast
16	chr10:53986000-53986800	Enhancers	NHEK	skin
17	chr10:53986200-53986400	Enhancers	Aorta	Aorta
18	chr10:53986200-53986600	Enhancers	NH-A	brain
19	chr10:53986200-53988200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr10:53986600-53992400	Weak transcription	NHLF	lung
21	chr10:53986800-53987000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:53986800-53988000	Weak transcription	HMEC	breast
23	chr10:53986800-53988000	Weak transcription	NHEK	skin
24	chr10:53986800-53988200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr10:53986800-53989000	Weak transcription	NHDF-Ad	bronchial
26	chr10:53987200-53988400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr10:53987800-53988200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:53988000-53989600	Enhancers	HMEC	breast
29	chr10:53988000-53989600	Enhancers	NHEK	skin
30	chr10:53988200-53989400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:53988200-53989600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:53988200-53990600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:53988400-53989400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr10:53989000-53989400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr10:53989000-53989600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr10:53989000-53989600	Enhancers	HUVEC	blood vessel
37	chr10:53989000-53989600	Enhancers	NHDF-Ad	bronchial
38	chr10:53989400-53992400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr10:53989400-53992400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr10:53989400-53992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr10:53989600-53992200	Weak transcription	HUVEC	blood vessel
42	chr10:53989600-53992400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:53989600-53992400	Weak transcription	HMEC	breast
44	chr10:53989600-53992400	Weak transcription	NHEK	skin
45	chr10:53990600-53992400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:53990800-53991800	Enhancers	Stomach Mucosa	stomach
47	chr10:53990800-53993000	Enhancers	Primary B cells from peripheral blood	blood
48	chr10:53991200-53992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:53991600-53992600	Enhancers	Primary B cells from cord blood	blood
50	chr10:53991800-53992200	Weak transcription	Stomach Mucosa	stomach

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