Variant report

Variant	nsv555645
Chromosome Location	chr11:85886994-85898770
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 475 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:475 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11234569	chr11:85886994-85886995	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs538194110	chr11:85887023-85887024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs139879714	chr11:85887037-85887038	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571658711	chr11:85887074-85887075	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534034081	chr11:85887075-85887076	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs535489789	chr11:85887078-85887079	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553879834	chr11:85887092-85887093	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191394357	chr11:85887118-85887119	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182771258	chr11:85887145-85887146	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs186581279	chr11:85887262-85887263	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576665281	chr11:85887307-85887308	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544154490	chr11:85887347-85887348	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs144383074	chr11:85887427-85887428	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs7115011	chr11:85887435-85887436	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540307564	chr11:85887457-85887458	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560306627	chr11:85887464-85887465	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529072993	chr11:85887479-85887480	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs5793186	chr11:85887490-85887491	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs549203213	chr11:85887525-85887526	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs539620612	chr11:85887549-85887550	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139982647	chr11:85887555-85887556	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531501117	chr11:85887577-85887578	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11828423	chr11:85887615-85887616	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571531808	chr11:85887669-85887670	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs149852609	chr11:85887685-85887686	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs573088471	chr11:85887707-85887708	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs145684865	chr11:85887758-85887759	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs141559983	chr11:85887767-85887768	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536399099	chr11:85887781-85887782	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201665585	chr11:85887927-85887928	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs191026431	chr11:85887928-85887929	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs576617082	chr11:85887931-85887932	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs117488860	chr11:85888003-85888004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs559229706	chr11:85888031-85888032	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs577533479	chr11:85888085-85888086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540255259	chr11:85888117-85888118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs553397538	chr11:85888127-85888128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564082955	chr11:85888161-85888162	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183126459	chr11:85888214-85888215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs370491081	chr11:85888215-85888216	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs3851180	chr11:85888231-85888232	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375297054	chr11:85888243-85888244	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs531563212	chr11:85888245-85888246	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562584352	chr11:85888283-85888284	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs147689873	chr11:85888284-85888285	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs3069855	chr11:85888293-85888294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3888884	chr11:85888321-85888322	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs527648233	chr11:85888328-85888329	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs187458369	chr11:85888335-85888336	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567379999	chr11:85888337-85888338	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:325 , 50 per page) page: 1 2 3 4 5 6 7

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	chr11:85883200-85888000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
7	chr11:85883400-85887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:85883400-85888200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:85883400-85888800	Enhancers	HMEC	breast
10	chr11:85883600-85888000	Enhancers	HUVEC	blood vessel
11	chr11:85883600-85888800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:85883600-85889000	Enhancers	Osteobl	bone
13	chr11:85883800-85887000	Enhancers	NHDF-Ad	bronchial
14	chr11:85883800-85887000	Enhancers	NHLF	lung
15	chr11:85883800-85887800	Enhancers	HSMMtube	muscle
16	chr11:85883800-85890400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:85883800-85890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:85884000-85887000	Enhancers	Right Atrium	heart
19	chr11:85884400-85887400	Weak transcription	GM12878-XiMat	blood
20	chr11:85884600-85887000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr11:85884600-85888200	Enhancers	Liver	Liver
22	chr11:85884800-85887000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:85884800-85887000	Enhancers	Fetal Heart	heart
24	chr11:85884800-85888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:85885200-85887200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:85885200-85888000	Flanking Active TSS	K562	blood
27	chr11:85885200-85888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:85885200-85888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:85885400-85887000	Enhancers	Right Ventricle	heart
31	chr11:85885800-85887000	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:85885800-85887600	Weak transcription	A549	lung
33	chr11:85885800-85887800	Weak transcription	Spleen	Spleen
34	chr11:85885800-85888600	Enhancers	NHEK	skin
35	chr11:85885800-85888800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:85886000-85887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:85886000-85888000	Enhancers	NH-A	brain
38	chr11:85886000-85888600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:85886000-85888800	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:85886000-85888800	Enhancers	HSMM	muscle
41	chr11:85886000-85890200	Weak transcription	Ovary	ovary
42	chr11:85886000-85890800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr11:85886000-85891600	Weak transcription	Brain Substantia Nigra	brain
44	chr11:85886000-85891600	Weak transcription	Fetal Thymus	thymus
45	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
46	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
47	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:85886200-85887200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:85886200-85887600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:85886200-85887800	Weak transcription	Aorta	Aorta

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