Variant report

Variant	nsv975190
Chromosome Location	chr11:58893580-58903375
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:5)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:58896273..58898836-chr11:58901279..58902925,2	K562	blood:
2	chr11:58896273..58898836-chr11:58901279..58902925,2	K562	blood:
3	chr11:58726086..58726653-chr11:58902781..58903961,3	K562	blood:
4	chr11:58890846..58893267-chr11:58894892..58896437,2	MCF-7	breast:
5	chr11:58892733..58893477-chr11:58901491..58902182,2	K562	blood:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MPEG1-2	chr11:58901446-58903061	NR_110184
2	lnc-MPEG1-2	chr11:58901132-58902156	XLOC_009445
3	lnc-MPEG1-2	chr11:58901697-58903061	ENSG00000245571
4	lnc-MPEG1-2	chr11:58902051-58902156	XLOC_009445
5	lnc-MPEG1-2	chr11:58900752-58901122	XLOC_009445
6	lnc-MPEG1-2	chr11:58902051-58903061	XLOC_009445
7	lnc-MPEG1-2	chr11:58897606-58897773	ENSG00000245571
8	lnc-MPEG1-2	chr11:58897610-58901122	XLOC_009445
9	lnc-MPEG1-2	chr11:58901712-58903061	NONHSAT021502
10	lnc-MPEG1-2	chr11:58902763-58903061	ENSG00000245571
11	lnc-MPEG1-2	chr11:58897606-58897784	NONHSAT021502

No data

Variant related genes	Relation type
POU2F1	miRNA target sites
CDK6	miRNA target sites
PRTG	miRNA target sites
CRKL	miRNA target sites

Extended variants
information (count: 343 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147236932	chr11:58893587-58893588	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538348943	chr11:58893599-58893600	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141940888	chr11:58893621-58893622	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199897803	chr11:58893718-58893719	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542435872	chr11:58893720-58893721	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201555322	chr11:58893722-58893723	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200825736	chr11:58893739-58893740	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555927542	chr11:58893756-58893757	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17153376	chr11:58893761-58893762	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527774481	chr11:58893762-58893763	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367710986	chr11:58893783-58893784	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1941711	chr11:58893935-58893936	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369812575	chr11:58893945-58893946	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541474346	chr11:58894008-58894009	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148302115	chr11:58894053-58894054	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556601586	chr11:58894066-58894067	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1938588	chr11:58894067-58894068	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs377537177	chr11:58894096-58894097	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568464416	chr11:58894160-58894161	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550509007	chr11:58894165-58894166	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372393433	chr11:58894191-58894192	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73489484	chr11:58894225-58894226	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1938589	chr11:58894253-58894254	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2154626	chr11:58894303-58894304	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs370811287	chr11:58894318-58894319	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561125707	chr11:58894356-58894357	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11825439	chr11:58894357-58894358	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2154627	chr11:58894368-58894369	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs534424356	chr11:58894371-58894372	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564559199	chr11:58894421-58894422	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150901485	chr11:58894467-58894468	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35468070	chr11:58894531-58894532	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546970354	chr11:58894569-58894570	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570927183	chr11:58894572-58894573	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188157650	chr11:58894579-58894580	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536339039	chr11:58894580-58894581	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549322954	chr11:58894594-58894595	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567803491	chr11:58894597-58894598	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538561495	chr11:58894630-58894631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368361629	chr11:58894643-58894644	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547921460	chr11:58894674-58894675	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180866025	chr11:58894697-58894698	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117646250	chr11:58894732-58894733	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536636080	chr11:58894733-58894734	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368279307	chr11:58894775-58894776	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554133456	chr11:58894782-58894783	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572487140	chr11:58894809-58894810	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184717240	chr11:58894857-58894858	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556866215	chr11:58894866-58894867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2154964	chr11:58894914-58894915	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:58875200-58909600	Weak transcription	Stomach Mucosa	stomach
2	chr11:58875400-58909600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:58880800-58894800	ZNF genes & repeats	Dnd41	blood
4	chr11:58881600-58903600	Weak transcription	Hela-S3	cervix
5	chr11:58884000-58894800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:58886000-58898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:58886400-58893600	Strong transcription	Fetal Thymus	thymus
8	chr11:58886600-58898600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:58886800-58898400	Weak transcription	Osteobl	bone
10	chr11:58886800-58898800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:58886800-58901200	Weak transcription	NHLF	lung
12	chr11:58886800-58903400	Weak transcription	NHEK	skin
13	chr11:58887000-58899000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:58887000-58899000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:58887800-58894600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr11:58888200-58893800	Weak transcription	HepG2	liver
17	chr11:58888400-58899400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:58889800-58894600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
19	chr11:58890000-58893600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:58890000-58894600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr11:58890200-58894200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:58890600-58894400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr11:58890800-58893600	Strong transcription	HSMM	muscle
24	chr11:58890800-58893800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:58890800-58893800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr11:58890800-58893800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr11:58890800-58894000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr11:58890800-58894400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
29	chr11:58890800-58894600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:58891000-58893600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr11:58891000-58894400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:58891400-58893600	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr11:58891400-58899200	Weak transcription	Left Ventricle	heart
34	chr11:58891600-58893600	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:58891600-58893800	Strong transcription	HUVEC	blood vessel
36	chr11:58891600-58894000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
37	chr11:58891600-58894400	Strong transcription	HMEC	breast
38	chr11:58891800-58894400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:58891800-58894600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr11:58892000-58893800	Strong transcription	NHDF-Ad	bronchial
41	chr11:58892000-58894400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:58892200-58893800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:58892200-58894000	ZNF genes & repeats	A549	lung
44	chr11:58892200-58899200	Weak transcription	Small Intestine	intestine
45	chr11:58892600-58893800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr11:58892800-58893600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
47	chr11:58892800-58893600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:58892800-58893600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:58892800-58893600	Strong transcription	Fetal Intestine Large	intestine
50	chr11:58892800-58893800	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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