Variant report

Variant	esv2760233
Chromosome Location	chr11:85887957-85899812
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	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
2	chr11:85868370..85870226-chr11:85888178..85889880,2	K562	blood:
3	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
4	chr11:85888440..85890283-chr11:85910710..85912765,2	K562	blood:
5	chr11:85868596..85870226-chr11:85886997..85889880,2	K562	blood:
6	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
7	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:
8	chr11:85898887..85900627-chr11:85954638..85957310,2	MCF-7	breast:
9	chr11:85857814..85859738-chr11:85892040..85894023,2	K562	blood:
10	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
11	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
12	chr11:85853323..85855104-chr11:85891791..85893559,2	K562	blood:
13	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
14	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
15	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:
16	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:
17	chr11:85853396..85856264-chr11:85887002..85888744,3	K562	blood:
18	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
19	chr11:85861500..85864478-chr11:85889998..85891794,2	K562	blood:
20	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
21	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
22	chr11:85887352..85890234-chr11:85905723..85909475,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000074266	chromatin interactions
ENSG00000073921	chromatin interactions
ENSG00000254699	chromatin interactions
ENSG00000254502	chromatin interactions
ENSG00000200877	chromatin interactions

Extended variants
information (count: 487 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:487 , 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	rs117488860	chr11:85888003-85888004	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs559229706	chr11:85888031-85888032	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577533479	chr11:85888085-85888086	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540255259	chr11:85888117-85888118	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs553397538	chr11:85888127-85888128	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564082955	chr11:85888161-85888162	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183126459	chr11:85888214-85888215	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370491081	chr11:85888215-85888216	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs3851180	chr11:85888231-85888232	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs375297054	chr11:85888243-85888244	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531563212	chr11:85888245-85888246	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562584352	chr11:85888283-85888284	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs147689873	chr11:85888284-85888285	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3069855	chr11:85888293-85888294	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3888884	chr11:85888321-85888322	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs527648233	chr11:85888328-85888329	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187458369	chr11:85888335-85888336	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs567379999	chr11:85888337-85888338	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142476795	chr11:85888435-85888436	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs34722128	chr11:85888443-85888444	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs570749668	chr11:85888545-85888546	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143130290	chr11:85888658-85888659	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12786136	chr11:85888693-85888694	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs1975377	chr11:85888712-85888713	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs570127490	chr11:85888774-85888775	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs539254767	chr11:85888775-85888776	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34669711	chr11:85888779-85888780	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370973806	chr11:85888786-85888787	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs148248084	chr11:85888813-85888814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569877084	chr11:85888868-85888869	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1229635	chr11:85888874-85888875	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572702563	chr11:85888879-85888880	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1238840	chr11:85888884-85888885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575525728	chr11:85888921-85888922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553794976	chr11:85888925-85888926	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs573727815	chr11:85888935-85888936	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs542725113	chr11:85888936-85888937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556261600	chr11:85888937-85888938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528664837	chr11:85888943-85888944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547231400	chr11:85888946-85888947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs368662434	chr11:85888965-85888966	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1214912	chr11:85888972-85888973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs564984538	chr11:85888974-85888975	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527588424	chr11:85888975-85888976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs191883818	chr11:85889001-85889002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184918790	chr11:85889011-85889012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560943309	chr11:85889016-85889017	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568700881	chr11:85889033-85889034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs530065126	chr11:85889042-85889043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74598878	chr11:85889049-85889050	Weak transcription Enhancers	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:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85882600-85890800	Enhancers	Placenta	Placenta
2	chr11:85882600-85891600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr11:85883200-85888000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
5	chr11:85883400-85888200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:85883400-85888800	Enhancers	HMEC	breast
7	chr11:85883600-85888000	Enhancers	HUVEC	blood vessel
8	chr11:85883600-85888800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr11:85883600-85889000	Enhancers	Osteobl	bone
10	chr11:85883800-85890400	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:85883800-85890800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:85884600-85888200	Enhancers	Liver	Liver
13	chr11:85884800-85888800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:85885200-85888000	Flanking Active TSS	K562	blood
15	chr11:85885200-85888800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:85885200-85888800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:85885200-85895200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:85885800-85888600	Enhancers	NHEK	skin
19	chr11:85885800-85888800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:85886000-85888000	Enhancers	NH-A	brain
21	chr11:85886000-85888600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:85886000-85888800	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:85886000-85888800	Enhancers	HSMM	muscle
24	chr11:85886000-85890200	Weak transcription	Ovary	ovary
25	chr11:85886000-85890800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr11:85886000-85891600	Weak transcription	Brain Substantia Nigra	brain
27	chr11:85886000-85891600	Weak transcription	Fetal Thymus	thymus
28	chr11:85886000-85894000	Weak transcription	Esophagus	oesophagus
29	chr11:85886000-85894000	Weak transcription	Pancreas	Pancrea
30	chr11:85886000-85903000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr11:85886200-85889800	Weak transcription	Small Intestine	intestine
32	chr11:85886200-85890400	Weak transcription	Lung	lung
33	chr11:85886200-85893800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr11:85886400-85888400	Weak transcription	Psoas Muscle	Psoas
35	chr11:85886400-85888600	Weak transcription	Fetal Intestine Small	intestine
36	chr11:85886400-85890200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:85886600-85888400	Weak transcription	Left Ventricle	heart
38	chr11:85886800-85889000	Enhancers	Primary hematopoietic stem cells	blood
39	chr11:85886800-85894000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:85887000-85888200	Enhancers	Brain Hippocampus Middle	brain
41	chr11:85887000-85889600	Weak transcription	NHDF-Ad	bronchial
42	chr11:85887000-85889600	Weak transcription	NHLF	lung
43	chr11:85887000-85890400	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:85887000-85891600	Weak transcription	Brain Angular Gyrus	brain
45	chr11:85887000-85892800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr11:85887000-85894000	Weak transcription	Right Atrium	heart
47	chr11:85887200-85888000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:85887200-85888800	Flanking Active TSS	Hela-S3	cervix
49	chr11:85887200-85894200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr11:85887200-85898000	Weak transcription	Brain Anterior Caudate	brain

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