Variant report

Variant	nsv898060
Chromosome Location	chr11:86822077-86912633
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
2	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
3	chr11:86889371..86892096-chr11:86895507..86898091,3	K562	blood:
4	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
5	chr11:86840088..86842543-chr11:86845796..86847320,2	K562	blood:
6	chr11:86779436..86781916-chr11:86820681..86823632,2	K562	blood:
7	chr11:86900182..86903492-chr11:86905711..86910083,4	K562	blood:
8	chr11:86867900..86869412-chr11:86871775..86874240,2	K562	blood:
9	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
10	chr11:86847845..86849686-chr11:86851887..86854201,2	MCF-7	breast:
11	chr11:86899712..86901382-chr11:86903626..86906084,2	K562	blood:
12	chr11:86840088..86842543-chr11:86845796..86847320,2	K562	blood:
13	chr11:86847845..86849686-chr11:86851887..86854201,2	MCF-7	breast:
14	chr11:86818728..86820494-chr11:86831907..86834474,2	K562	blood:
15	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
16	chr11:86895352..86897026-chr11:86899805..86901720,2	K562	blood:
17	chr11:86664821..86667112-chr11:86824827..86827318,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246523	chromatin interactions
ENSG00000174804	chromatin interactions

Extended variants
information (count: 3806 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:3806 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2124579	chr11:86822077-86822078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184012699	chr11:86822089-86822090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151200590	chr11:86822100-86822101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567613202	chr11:86822120-86822121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77803364	chr11:86822132-86822133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556321885	chr11:86822156-86822157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576203728	chr11:86822164-86822165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547835115	chr11:86822253-86822254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189142949	chr11:86822256-86822257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193034380	chr11:86822267-86822268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386755846	chr11:86822289-86822290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2168467	chr11:86822290-86822291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs559934032	chr11:86822319-86822320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573968854	chr11:86822346-86822347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533510621	chr11:86822362-86822363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs4396314	chr11:86822412-86822413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs111843574	chr11:86822415-86822416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs35666829	chr11:86822418-86822419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565330168	chr11:86822427-86822428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527826686	chr11:86822450-86822451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4451755	chr11:86822471-86822472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567355480	chr11:86822478-86822479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4351839	chr11:86822514-86822515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs547416339	chr11:86822529-86822530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372776832	chr11:86822556-86822557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550029188	chr11:86822613-86822614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570026417	chr11:86822617-86822618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539179866	chr11:86822618-86822619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs558932665	chr11:86822634-86822635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577658018	chr11:86822647-86822648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56686948	chr11:86822651-86822652	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185330373	chr11:86822652-86822653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542411223	chr11:86822702-86822703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367987130	chr11:86822703-86822704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59692546	chr11:86822706-86822707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76755031	chr11:86822708-86822709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58350802	chr11:86822711-86822712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149053691	chr11:86822714-86822715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542659430	chr11:86822728-86822729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547950191	chr11:86822749-86822750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373087064	chr11:86822762-86822763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147090877	chr11:86822766-86822767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113622673	chr11:86822769-86822770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2445554	chr11:86822774-86822775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs117139764	chr11:86822785-86822786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561058940	chr11:86822788-86822789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541193731	chr11:86822814-86822815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79594051	chr11:86822824-86822825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529998091	chr11:86822853-86822854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60061486	chr11:86822854-86822855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86787600-86825200	Weak transcription	Brain Substantia Nigra	brain
2	chr11:86788200-86824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr11:86788200-86830400	Weak transcription	Right Ventricle	heart
4	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:86804400-86824800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:86804600-86824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr11:86804600-86839400	Weak transcription	Fetal Kidney	kidney
8	chr11:86806800-86829600	Weak transcription	Primary T cells from cord blood	blood
9	chr11:86806800-86835800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:86808800-86824600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:86809000-86844000	Weak transcription	Ovary	ovary
12	chr11:86809000-86876000	Weak transcription	Left Ventricle	heart
13	chr11:86809400-86825200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:86813600-86825000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:86816600-86838000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:86818200-86824600	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:86818200-86828200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:86818200-86832000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:86818200-86839200	Weak transcription	Fetal Lung	lung
20	chr11:86818200-86842800	Weak transcription	Aorta	Aorta
21	chr11:86818400-86842400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:86820000-86830600	Weak transcription	HepG2	liver
23	chr11:86820200-86825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:86822000-86827200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:86824600-86824800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr11:86824600-86824800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:86824600-86824800	Enhancers	Brain Anterior Caudate	brain
28	chr11:86824600-86824800	Enhancers	Brain Hippocampus Middle	brain
29	chr11:86824600-86825000	Enhancers	Colon Smooth Muscle	Colon
30	chr11:86824600-86825200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:86824600-86826000	Enhancers	Adipose Nuclei	Adipose
32	chr11:86824800-86825400	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:86824800-86825600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:86824800-86825800	Weak transcription	Brain Anterior Caudate	brain
35	chr11:86824800-86826000	Enhancers	Rectal Smooth Muscle	rectum
36	chr11:86824800-86830200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:86825000-86825400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr11:86825000-86825800	Weak transcription	Colon Smooth Muscle	Colon
39	chr11:86825000-86826200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:86825000-86827800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:86825200-86826000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr11:86825200-86826000	Enhancers	Brain Substantia Nigra	brain
43	chr11:86825200-86826000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:86825400-86825800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:86825400-86826000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:86825400-86826000	Enhancers	Brain Hippocampus Middle	brain
47	chr11:86825800-86826000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:86825800-86826000	Enhancers	Colon Smooth Muscle	Colon
49	chr11:86825800-86826200	Enhancers	Brain Anterior Caudate	brain
50	chr11:86826000-86830400	Weak transcription	Adipose Nuclei	Adipose

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