Variant report

Variant	nsv1040400
Chromosome Location	chr11:85883303-85898809
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:85872408..85874802-chr11:85892436..85894621,2	K562	blood:
2	chr11:85848367..85849977-chr11:85884003..85885700,2	K562	blood:
3	chr11:85779660..85782630-chr11:85885174..85887407,2	MCF-7	breast:
4	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
5	chr11:85836520..85838381-chr11:85894260..85896246,2	K562	blood:
6	chr11:85861500..85864478-chr11:85889998..85891794,2	K562	blood:
7	chr11:85887077..85889450-chr11:85892380..85895254,3	MCF-7	breast:
8	chr11:85857814..85859738-chr11:85892040..85894023,2	K562	blood:
9	chr11:85853323..85855104-chr11:85891791..85893559,2	K562	blood:
10	chr11:85888440..85890283-chr11:85910710..85912765,2	K562	blood:
11	chr11:85890926..85895677-chr11:85901056..85906162,7	K562	blood:
12	chr11:85827660..85829775-chr11:85890965..85893540,2	K562	blood:
13	chr11:85868370..85870226-chr11:85888178..85889880,2	K562	blood:
14	chr11:85753896..85756405-chr11:85894218..85896804,2	K562	blood:
15	chr11:85780298..85782257-chr11:85893128..85895149,2	K562	blood:
16	chr11:85887352..85890234-chr11:85905723..85909475,3	K562	blood:
17	chr11:85778265..85780828-chr11:85883651..85886278,2	K562	blood:
18	chr11:85853396..85856264-chr11:85887002..85888744,3	K562	blood:
19	chr11:85868596..85870226-chr11:85886997..85889880,2	K562	blood:
20	chr11:85894603..85896311-chr11:85907931..85910681,2	K562	blood:
21	chr11:85809081..85811132-chr11:85882355..85885096,2	K562	blood:
22	chr11:85849886..85854014-chr11:85893559..85897041,3	K562	blood:
23	chr11:85894174..85895049-chr11:85903549..85904117,2	Hela-S3	cervix:
24	chr11:85777970..85780029-chr11:85892784..85894439,2	K562	blood:
25	chr11:85858516..85861097-chr11:85882162..85885113,2	K562	blood:
26	chr11:85891211..85894125-chr11:85910067..85912680,3	K562	blood:

No data

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

Extended variants
information (count: 618 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7949297	chr11:85883303-85883304	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs371350109	chr11:85883382-85883383	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541825714	chr11:85883400-85883401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183176859	chr11:85883403-85883404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375887220	chr11:85883484-85883485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558334714	chr11:85883498-85883499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146835427	chr11:85883505-85883506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73511855	chr11:85883518-85883519	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs558816911	chr11:85883522-85883523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554335369	chr11:85883569-85883570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574340820	chr11:85883572-85883573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117777281	chr11:85883593-85883594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565113458	chr11:85883712-85883713	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140673556	chr11:85883823-85883824	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186069751	chr11:85883849-85883850	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559544336	chr11:85883853-85883854	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528597677	chr11:85883912-85883913	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs78677412	chr11:85883921-85883922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11823685	chr11:85883957-85883958	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190346595	chr11:85883979-85883980	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551277437	chr11:85883986-85883987	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182913974	chr11:85883994-85883995	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs116815112	chr11:85884060-85884061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs558526430	chr11:85884110-85884111	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs187920972	chr11:85884119-85884120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs534410781	chr11:85884138-85884139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561045771	chr11:85884146-85884147	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529632004	chr11:85884159-85884160	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs192155361	chr11:85884162-85884163	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs184096759	chr11:85884167-85884168	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577071969	chr11:85884169-85884170	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs574756841	chr11:85884174-85884175	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs72962074	chr11:85884263-85884264	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs76752998	chr11:85884271-85884272	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528521597	chr11:85884289-85884290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs144474667	chr11:85884332-85884333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114321352	chr11:85884334-85884335	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145394560	chr11:85884384-85884385	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs149226849	chr11:85884395-85884396	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571009240	chr11:85884417-85884418	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370196945	chr11:85884420-85884421	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571702689	chr11:85884455-85884456	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73511857	chr11:85884459-85884460	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs377038736	chr11:85884485-85884486	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs565650199	chr11:85884511-85884512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs143231544	chr11:85884556-85884557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148310991	chr11:85884557-85884558	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs575354825	chr11:85884622-85884623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374040822	chr11:85884624-85884625	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557131400	chr11:85884645-85884646	Enhancers Weak transcription	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:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85873600-85883800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr11:85873600-85883800	Weak transcription	HSMMtube	muscle
3	chr11:85873600-85884000	Weak transcription	Right Atrium	heart
4	chr11:85873800-85883800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:85874000-85885400	Weak transcription	Small Intestine	intestine
6	chr11:85874200-85884000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:85874600-85884000	Weak transcription	A549	lung
8	chr11:85875000-85883800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:85875400-85883600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:85875800-85883800	Weak transcription	HSMM	muscle
11	chr11:85876000-85884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:85879000-85884000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:85879000-85885600	Weak transcription	Psoas Muscle	Psoas
14	chr11:85879200-85883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:85879200-85883600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:85879200-85883800	Weak transcription	Adipose Nuclei	Adipose
17	chr11:85879200-85883800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:85879200-85884200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr11:85879200-85884600	Weak transcription	Liver	Liver
20	chr11:85879400-85883800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:85879400-85884000	Weak transcription	Fetal Lung	lung
22	chr11:85879400-85884800	Weak transcription	HepG2	liver
23	chr11:85879800-85884200	Weak transcription	Fetal Stomach	stomach
24	chr11:85882200-85885200	Enhancers	K562	blood
25	chr11:85882400-85883400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr11:85882400-85883600	Weak transcription	HUVEC	blood vessel
27	chr11:85882400-85884600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr11:85882400-85884800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr11:85882400-85885200	Enhancers	Hela-S3	cervix
30	chr11:85882600-85884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:85882600-85887000	Enhancers	Fetal Muscle Leg	muscle
32	chr11:85882600-85887800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:85882600-85890800	Enhancers	Placenta	Placenta
34	chr11:85882600-85891600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr11:85882800-85884800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:85882800-85885200	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:85882800-85886400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:85883000-85885200	Weak transcription	Spleen	Spleen
39	chr11:85883200-85885800	Enhancers	Brain Hippocampus Middle	brain
40	chr11:85883200-85888000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:85883200-85891400	Weak transcription	Thymus	Thymus
42	chr11:85883400-85887200	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:85883400-85888200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:85883400-85888800	Enhancers	HMEC	breast
45	chr11:85883600-85883800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:85883600-85884800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:85883600-85885400	Enhancers	NHEK	skin
48	chr11:85883600-85885600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr11:85883600-85885600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:85883600-85885800	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links