Variant report

Variant	nsv526086
Chromosome Location	chr11:71867167-71872777
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:71871545-71871605	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr11:71871429-71871762	IMR90	lung:	n/a	n/a
3	FOS	chr11:71871368-71871734	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr11:71871366-71871692	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr11:71871366-71871732	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr11:71871369-71871704	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA1	chr11:71867791-71868624	PBDE	blood:	n/a	n/a
8	MYC	chr11:71871417-71871606	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71855220..71857768-chr11:71870927..71873588,3	K562	blood:
2	chr11:71870250..71872525-chr11:71873469..71876026,2	K562	blood:
3	chr11:71823336..71825069-chr11:71869762..71871942,2	K562	blood:

Variant related genes	Relation type
ENSG00000256518	TF binding region
ENSG00000110200	chromatin interactions

Extended variants
information (count: 205 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs590586	chr11:71867167-71867168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184810100	chr11:71867237-71867238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573128689	chr11:71867389-71867390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555168405	chr11:71867406-71867407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190373289	chr11:71867412-71867413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147661075	chr11:71867450-71867451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181055367	chr11:71867480-71867481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184144038	chr11:71867552-71867553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573612578	chr11:71867562-71867563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562630242	chr11:71867571-71867572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530001202	chr11:71867613-71867614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541728122	chr11:71867691-71867692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373811623	chr11:71867727-71867728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75313463	chr11:71867841-71867842	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
15	rs189861937	chr11:71867881-71867882	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs200957441	chr11:71867903-71867904	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs181146972	chr11:71867905-71867906	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs535135704	chr11:71867940-71867941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs570212509	chr11:71867974-71867975	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs185640332	chr11:71867989-71867990	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs693273	chr11:71867993-71867994	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs550771683	chr11:71868005-71868006	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs190746246	chr11:71868014-71868015	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148907882	chr11:71868100-71868101	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs548567186	chr11:71868220-71868221	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs76112079	chr11:71868243-71868244	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs181589808	chr11:71868252-71868253	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs559134534	chr11:71868267-71868268	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs577424684	chr11:71868271-71868272	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs11235456	chr11:71868346-71868347	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs186555123	chr11:71868392-71868393	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs148036436	chr11:71868399-71868400	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542139777	chr11:71868434-71868435	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs141710502	chr11:71868440-71868441	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs150139248	chr11:71868491-71868492	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs561535796	chr11:71868538-71868539	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563701289	chr11:71868548-71868549	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs115867829	chr11:71868559-71868560	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs549438284	chr11:71868577-71868578	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563114310	chr11:71868582-71868583	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530209940	chr11:71868600-71868601	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs548909837	chr11:71868603-71868604	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11400542	chr11:71868618-71868619	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs397750215	chr11:71868620-71868621	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs398088099	chr11:71868626-71868627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397755410	chr11:71868627-71868628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567043381	chr11:71868675-71868676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs670507	chr11:71868759-71868760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs117589756	chr11:71868897-71868898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561208455	chr11:71868909-71868910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	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
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71863600-71871000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:71864000-71867400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:71864200-71867400	Weak transcription	NHEK	skin
4	chr11:71866200-71867800	Weak transcription	K562	blood
5	chr11:71867400-71868600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:71867400-71868600	Enhancers	NHEK	skin
7	chr11:71867800-71868400	Enhancers	K562	blood
8	chr11:71868400-71874000	Weak transcription	K562	blood
9	chr11:71868600-71871200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:71868600-71873200	Weak transcription	NHEK	skin
11	chr11:71870000-71870200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr11:71871000-71871600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:71871200-71871600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:71871200-71871800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:71871400-71871800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:71871600-71871800	Enhancers	NHLF	lung
17	chr11:71871600-71874000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:71871600-71874800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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