Variant report

Variant	nsv555257
Chromosome Location	chr11:67329742-67331278
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:4)
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	chr11:67329340..67331147-chr11:67336004..67337514,2	MCF-7	breast:
2	chr11:67330448..67332592-chr11:67370331..67373088,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CABP2-1	chr11:67330535-67330635	XLOC_009480
2	lnc-CABP2-1	chr11:67330534-67330635	NONHSAT022439
3	lnc-CABP2-1	chr11:67330836-67330888	XLOC_009480
4	lnc-CABP2-1	chr11:67330835-67330888	NONHSAT022439

No data

Variant related genes	Relation type
ENSG00000255119	chromatin interactions
SNX16	miRNA target sites

Extended variants
information (count: 52 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs684928	chr11:67329742-67329743	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553106305	chr11:67329816-67329817	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs149596543	chr11:67329834-67329835	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs184882862	chr11:67329836-67329837	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563568890	chr11:67329837-67329838	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs530970768	chr11:67329904-67329905	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs189825168	chr11:67329936-67329937	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs61490072	chr11:67329994-67329995	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528549405	chr11:67329997-67329998	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546898376	chr11:67330045-67330046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10896181	chr11:67330068-67330069	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs532675431	chr11:67330069-67330070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181033219	chr11:67330105-67330106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185922138	chr11:67330195-67330196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148459070	chr11:67330199-67330200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555307745	chr11:67330217-67330218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567270547	chr11:67330259-67330260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9651716	chr11:67330260-67330261	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146030693	chr11:67330261-67330262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577949342	chr11:67330318-67330319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543271335	chr11:67330324-67330325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545224558	chr11:67330328-67330329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557322846	chr11:67330332-67330333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575596198	chr11:67330335-67330336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543061969	chr11:67330336-67330337	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561308569	chr11:67330354-67330355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs80017208	chr11:67330372-67330373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191045224	chr11:67330468-67330469	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs565224857	chr11:67330471-67330472	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532595805	chr11:67330483-67330484	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs550746818	chr11:67330500-67330501	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562858027	chr11:67330519-67330520	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs181821370	chr11:67330587-67330588	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs529966716	chr11:67330600-67330601	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs563731823	chr11:67330624-67330625	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs548493054	chr11:67330648-67330649	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548703148	chr11:67330680-67330681	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569936956	chr11:67330692-67330693	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs567211042	chr11:67330717-67330718	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs534311330	chr11:67330776-67330777	Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546718881	chr11:67330872-67330873	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs571346009	chr11:67330899-67330900	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186390021	chr11:67330991-67330992	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs190752441	chr11:67331040-67331041	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs146675774	chr11:67331047-67331048	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368750442	chr11:67331076-67331077	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs183671849	chr11:67331094-67331095	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs559044713	chr11:67331122-67331123	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs140069786	chr11:67331141-67331142	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540265381	chr11:67331224-67331225	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67324200-67331000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:67325600-67331600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:67326000-67330800	Weak transcription	Left Ventricle	heart
4	chr11:67326400-67329800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:67326400-67329800	Weak transcription	NHEK	skin
6	chr11:67326400-67330400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:67326400-67330400	Weak transcription	Psoas Muscle	Psoas
8	chr11:67326400-67330600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:67326400-67330600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:67326400-67330800	Weak transcription	Right Atrium	heart
11	chr11:67326400-67331000	Weak transcription	Pancreas	Pancrea
12	chr11:67326400-67332200	Enhancers	Fetal Intestine Large	intestine
13	chr11:67326600-67332200	Enhancers	Fetal Intestine Small	intestine
14	chr11:67326800-67330000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:67327000-67330800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:67327200-67330400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:67327200-67330400	Weak transcription	HSMMtube	muscle
18	chr11:67327200-67330400	Weak transcription	Osteobl	bone
19	chr11:67327200-67330600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:67327200-67330600	Weak transcription	Fetal Muscle Leg	muscle
21	chr11:67327200-67330600	Weak transcription	Stomach Mucosa	stomach
22	chr11:67327200-67331000	Weak transcription	Right Ventricle	heart
23	chr11:67327600-67330800	Weak transcription	Aorta	Aorta
24	chr11:67328000-67330200	Weak transcription	HUVEC	blood vessel
25	chr11:67328400-67330600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:67328600-67330200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:67328600-67333800	Enhancers	Placenta	Placenta
28	chr11:67329000-67330200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:67329000-67332200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:67329200-67330800	Enhancers	HepG2	liver
31	chr11:67329200-67331400	Enhancers	Liver	Liver
32	chr11:67329400-67330000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr11:67329400-67330000	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:67329400-67330600	Enhancers	A549	lung
35	chr11:67329400-67332000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:67329400-67332000	Enhancers	Fetal Heart	heart
37	chr11:67329600-67330000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:67329600-67330400	Weak transcription	Fetal Kidney	kidney
39	chr11:67329600-67330800	Enhancers	Hela-S3	cervix
40	chr11:67329600-67331000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:67329800-67330400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:67329800-67330600	Enhancers	NH-A	brain
43	chr11:67329800-67330800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:67329800-67332000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:67329800-67332000	Enhancers	K562	blood
46	chr11:67329800-67332200	Enhancers	NHEK	skin
47	chr11:67330000-67331000	Enhancers	GM12878-XiMat	blood
48	chr11:67330000-67331600	Enhancers	Fetal Muscle Trunk	muscle
49	chr11:67330000-67332000	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:67330200-67331200	Enhancers	HUES64 Cell Line	embryonic stem cell

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