Variant report

Variant	nsv528182
Chromosome Location	chr11:86234604-86259006
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86197110..86198736-chr11:86234162..86236654,3	MCF-7	breast:
2	chr11:86233949..86236117-chr11:86381379..86384296,2	MCF-7	breast:
3	chr11:86232940..86235698-chr11:86318097..86321251,3	MCF-7	breast:
4	chr11:86224152..86227397-chr11:86232854..86235365,3	MCF-7	breast:
5	chr11:86013660..86015868-chr11:86235501..86237829,2	K562	blood:
6	chr11:86233360..86235497-chr11:86510369..86512822,2	MCF-7	breast:
7	chr11:86213565..86215510-chr11:86233907..86235455,2	K562	blood:
8	chr11:86219972..86222467-chr11:86232525..86235369,3	MCF-7	breast:
9	chr11:86227984..86231236-chr11:86233662..86235563,3	MCF-7	breast:
10	chr11:86209651..86211899-chr11:86233390..86235647,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	chromatin interactions
ENSG00000149196	chromatin interactions
ENSG00000151376	chromatin interactions

Extended variants
information (count: 1159 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs582282	chr11:86234604-86234605	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10501622	chr11:86234656-86234657	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs201240720	chr11:86234683-86234684	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs370731516	chr11:86234688-86234689	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs540741413	chr11:86234694-86234695	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147167666	chr11:86234699-86234700	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs138270896	chr11:86234732-86234733	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs544780175	chr11:86234754-86234755	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549256939	chr11:86234759-86234760	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs149625329	chr11:86234760-86234761	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs143559584	chr11:86234796-86234797	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs79960970	chr11:86234840-86234841	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs532035525	chr11:86234853-86234854	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs550267892	chr11:86234854-86234855	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs570445868	chr11:86234861-86234862	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539134619	chr11:86234874-86234875	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs371746959	chr11:86234889-86234890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564311561	chr11:86234915-86234916	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs566658657	chr11:86234917-86234918	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs535691613	chr11:86234948-86234949	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558521983	chr11:86234954-86234955	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575407231	chr11:86234969-86234970	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs528676661	chr11:86234997-86234998	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs140510515	chr11:86235017-86235018	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs538156975	chr11:86235030-86235031	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs74747613	chr11:86235070-86235071	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs577991204	chr11:86235093-86235094	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs187158942	chr11:86235095-86235096	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560172611	chr11:86235096-86235097	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs34952173	chr11:86235111-86235112	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191903654	chr11:86235181-86235182	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs80183317	chr11:86235208-86235209	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542860118	chr11:86235219-86235220	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs144382879	chr11:86235258-86235259	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375075412	chr11:86235285-86235286	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531945082	chr11:86235359-86235360	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148805532	chr11:86235360-86235361	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544015478	chr11:86235419-86235420	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs551386845	chr11:86235425-86235426	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs563945949	chr11:86235434-86235435	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs562073855	chr11:86235452-86235453	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs546724040	chr11:86235463-86235464	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs570172712	chr11:86235464-86235465	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs181472196	chr11:86235467-86235468	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs142469997	chr11:86235478-86235479	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368343009	chr11:86235500-86235501	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569013241	chr11:86235505-86235506	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376879484	chr11:86235520-86235521	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537773341	chr11:86235552-86235553	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs557997763	chr11:86235557-86235558	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86223000-86238200	Weak transcription	Pancreas	Pancrea
2	chr11:86223800-86236800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86223800-86237000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr11:86227000-86234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:86227000-86235000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:86227000-86235600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:86231000-86235000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86231000-86235000	Weak transcription	Placenta	Placenta
9	chr11:86231000-86235200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:86231000-86235200	Weak transcription	Fetal Kidney	kidney
11	chr11:86231200-86235000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:86231200-86235000	Weak transcription	Fetal Intestine Small	intestine
13	chr11:86231200-86235200	Weak transcription	Small Intestine	intestine
14	chr11:86231400-86235000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:86231400-86237400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:86231600-86235000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:86231600-86235200	Weak transcription	Ovary	ovary
18	chr11:86231800-86234800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:86231800-86235000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr11:86231800-86235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:86231800-86235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr11:86231800-86236600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:86231800-86237000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:86231800-86237200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:86231800-86259000	Weak transcription	Left Ventricle	heart
26	chr11:86232000-86235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:86232200-86234800	Weak transcription	K562	blood
28	chr11:86232200-86238600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr11:86232200-86250600	Weak transcription	Right Ventricle	heart
30	chr11:86233600-86235600	Enhancers	HUVEC	blood vessel
31	chr11:86234000-86235000	Enhancers	NHEK	skin
32	chr11:86234000-86235600	Enhancers	NH-A	brain
33	chr11:86234000-86236200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:86234000-86236400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr11:86234000-86236400	Enhancers	HSMM	muscle
36	chr11:86234200-86235200	Enhancers	NHDF-Ad	bronchial
37	chr11:86234200-86235400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:86234200-86235400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr11:86234200-86235400	Enhancers	Hela-S3	cervix
40	chr11:86234200-86235600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:86234200-86235600	Enhancers	Osteobl	bone
42	chr11:86234200-86236000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:86234200-86236000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr11:86234200-86236200	Enhancers	Fetal Lung	lung
45	chr11:86234200-86236200	Enhancers	HMEC	breast
46	chr11:86234200-86236200	Enhancers	HSMMtube	muscle
47	chr11:86234200-86236600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:86234400-86236200	Enhancers	Fetal Stomach	stomach
49	chr11:86234400-86236200	Enhancers	NHLF	lung
50	chr11:86234400-86236400	Enhancers	HepG2	liver

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