Variant report

Variant	nsv1049881
Chromosome Location	chr11:85885684-85898809
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
2	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
3	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
4	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
5	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
6	chr11:85853323..85855104-chr11:85891791..85893559,2	K562	blood:
7	chr11:85848367..85849977-chr11:85884003..85885700,2	K562	blood:
8	chr11:85779660..85782630-chr11:85885174..85887407,2	MCF-7	breast:
9	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
10	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:
11	chr11:85888440..85890283-chr11:85910710..85912765,2	K562	blood:
12	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
13	chr11:85887352..85890234-chr11:85905723..85909475,3	K562	blood:
14	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
15	chr11:85868370..85870226-chr11:85888178..85889880,2	K562	blood:
16	chr11:85868596..85870226-chr11:85886997..85889880,2	K562	blood:
17	chr11:85857814..85859738-chr11:85892040..85894023,2	K562	blood:
18	chr11:85861500..85864478-chr11:85889998..85891794,2	K562	blood:
19	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
20	chr11:85778265..85780828-chr11:85883651..85886278,2	K562	blood:
21	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
22	chr11:85853396..85856264-chr11:85887002..85888744,3	K562	blood:
23	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:
24	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000073921	chromatin interactions
ENSG00000254699	chromatin interactions
ENSG00000254502	chromatin interactions
ENSG00000200877	chromatin interactions

Extended variants
information (count: 519 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:519 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11824987	chr11:85885684-85885685	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578098045	chr11:85885702-85885703	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs369300470	chr11:85885711-85885712	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540492429	chr11:85885730-85885731	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560793846	chr11:85885736-85885737	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529554932	chr11:85885748-85885749	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549308249	chr11:85885769-85885770	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs149336593	chr11:85885797-85885798	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530449736	chr11:85885846-85885847	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544409594	chr11:85885853-85885854	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550633528	chr11:85885936-85885937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112223917	chr11:85885955-85885956	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76662052	chr11:85885956-85885957	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs118018068	chr11:85885983-85885984	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533118329	chr11:85886016-85886017	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186218941	chr11:85886053-85886054	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144418987	chr11:85886090-85886091	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535736175	chr11:85886111-85886112	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376541840	chr11:85886112-85886113	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555744696	chr11:85886120-85886121	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190494826	chr11:85886130-85886131	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531132923	chr11:85886135-85886136	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs73511865	chr11:85886137-85886138	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs558204623	chr11:85886143-85886144	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578037965	chr11:85886231-85886232	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540783987	chr11:85886242-85886243	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs553937490	chr11:85886370-85886371	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs539835662	chr11:85886418-85886419	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs559764058	chr11:85886426-85886427	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs573945456	chr11:85886479-85886480	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7948232	chr11:85886481-85886482	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs534953484	chr11:85886487-85886488	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572338372	chr11:85886523-85886524	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553274244	chr11:85886535-85886536	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs546129920	chr11:85886558-85886559	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs183293065	chr11:85886635-85886636	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564160908	chr11:85886658-85886659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148406097	chr11:85886703-85886704	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186200265	chr11:85886787-85886788	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs376376133	chr11:85886800-85886801	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144025316	chr11:85886807-85886808	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530983928	chr11:85886904-85886905	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375603633	chr11:85886989-85886990	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs11234569	chr11:85886994-85886995	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs538194110	chr11:85887023-85887024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139879714	chr11:85887037-85887038	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571658711	chr11:85887074-85887075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534034081	chr11:85887075-85887076	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs535489789	chr11:85887078-85887079	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs553879834	chr11:85887092-85887093	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:387 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85882600-85887000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:85882600-85887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:85882600-85890800	Enhancers	Placenta	Placenta
4	chr11:85882600-85891600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr11:85882800-85886400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:85883200-85885800	Enhancers	Brain Hippocampus Middle	brain
7	chr11:85883200-85888000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
9	chr11:85883400-85887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr11:85883400-85888200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:85883400-85888800	Enhancers	HMEC	breast
12	chr11:85883600-85885800	Enhancers	Primary hematopoietic stem cells	blood
13	chr11:85883600-85888000	Enhancers	HUVEC	blood vessel
14	chr11:85883600-85888800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:85883600-85889000	Enhancers	Osteobl	bone
16	chr11:85883800-85885800	Enhancers	Brain Angular Gyrus	brain
17	chr11:85883800-85886000	Enhancers	Brain Cingulate Gyrus	brain
18	chr11:85883800-85886000	Enhancers	Brain Substantia Nigra	brain
19	chr11:85883800-85886000	Enhancers	Fetal Thymus	thymus
20	chr11:85883800-85886200	Enhancers	Duodenum Mucosa	Duodenum
21	chr11:85883800-85886400	Enhancers	Fetal Intestine Small	intestine
22	chr11:85883800-85886600	Enhancers	Fetal Intestine Large	intestine
23	chr11:85883800-85886800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:85883800-85887000	Enhancers	NHDF-Ad	bronchial
25	chr11:85883800-85887000	Enhancers	NHLF	lung
26	chr11:85883800-85887800	Enhancers	HSMMtube	muscle
27	chr11:85883800-85890400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:85883800-85890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:85884000-85885800	Enhancers	A549	lung
30	chr11:85884000-85886000	Enhancers	Fetal Lung	lung
31	chr11:85884000-85886200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:85884000-85886200	Enhancers	Brain Anterior Caudate	brain
33	chr11:85884000-85886200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr11:85884000-85887000	Enhancers	Right Atrium	heart
35	chr11:85884200-85886000	Enhancers	Fetal Stomach	stomach
36	chr11:85884200-85886200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:85884400-85887400	Weak transcription	GM12878-XiMat	blood
38	chr11:85884600-85886000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:85884600-85887000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr11:85884600-85888200	Enhancers	Liver	Liver
41	chr11:85884800-85886000	Enhancers	Colon Smooth Muscle	Colon
42	chr11:85884800-85886200	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr11:85884800-85887000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:85884800-85887000	Enhancers	Fetal Heart	heart
45	chr11:85884800-85888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:85885000-85885800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:85885000-85886000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:85885000-85886200	Enhancers	Stomach Mucosa	stomach
49	chr11:85885000-85886400	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:85885200-85885800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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