Variant report

Variant	esv3463631
Chromosome Location	chr11:86284104-86288702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86288370..86290389-chr11:86296721..86299519,2	MCF-7	breast:
2	chr11:86287937..86289819-chr11:86294344..86297343,2	MCF-7	breast:
3	chr11:86285976..86287836-chr11:86291866..86294445,2	K562	blood:
4	chr11:86288660..86290609-chr11:86318150..86319919,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140968573	chr11:86284117-86284118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573543969	chr11:86284141-86284142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542752279	chr11:86284144-86284145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555972190	chr11:86284199-86284200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531797243	chr11:86284276-86284277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545197961	chr11:86284315-86284316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565183386	chr11:86284343-86284344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7126810	chr11:86284370-86284371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2511085	chr11:86284440-86284441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2511084	chr11:86284456-86284457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541324164	chr11:86284468-86284469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs33973657	chr11:86284470-86284471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530020114	chr11:86284471-86284472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553731520	chr11:86284483-86284484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550283104	chr11:86284486-86284487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570017846	chr11:86284531-86284532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2852378	chr11:86284546-86284547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532589481	chr11:86284575-86284576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552304516	chr11:86284580-86284581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10792858	chr11:86284606-86284607	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs565960730	chr11:86284662-86284663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528400704	chr11:86284666-86284667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567290754	chr11:86284707-86284708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534176336	chr11:86284785-86284786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556247558	chr11:86284833-86284834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536324269	chr11:86284841-86284842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181673987	chr11:86284854-86284855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554678450	chr11:86284858-86284859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545234832	chr11:86284964-86284965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7127944	chr11:86284968-86284969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs572266399	chr11:86284970-86284971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541365283	chr11:86285038-86285039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561008902	chr11:86285182-86285183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112635632	chr11:86285201-86285202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186399583	chr11:86285231-86285232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558473476	chr11:86285257-86285258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7130902	chr11:86285261-86285262	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532427179	chr11:86285262-86285263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552241411	chr11:86285287-86285288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs191554757	chr11:86285289-86285290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528638425	chr11:86285356-86285357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12364541	chr11:86285374-86285375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs568635467	chr11:86285394-86285395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs376268650	chr11:86285439-86285440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547530751	chr11:86285440-86285441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570327505	chr11:86285441-86285442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376225350	chr11:86285442-86285443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546436065	chr11:86285443-86285444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372758386	chr11:86285444-86285445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113253127	chr11:86285445-86285446	Enhancers Weak transcription	n/a	n/a	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:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86271000-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:86271000-86285400	Weak transcription	Right Atrium	heart
4	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
5	chr11:86271000-86291200	Weak transcription	Gastric	stomach
6	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
7	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
9	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
12	chr11:86279000-86285200	Weak transcription	Hela-S3	cervix
13	chr11:86279000-86285600	Weak transcription	Adipose Nuclei	Adipose
14	chr11:86279000-86289000	Weak transcription	NHEK	skin
15	chr11:86279400-86285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:86279400-86285600	Weak transcription	Fetal Stomach	stomach
17	chr11:86279400-86285600	Weak transcription	Ovary	ovary
18	chr11:86279800-86285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:86280000-86285600	Weak transcription	Pancreas	Pancrea
21	chr11:86280600-86285600	Weak transcription	Left Ventricle	heart
22	chr11:86281400-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:86281800-86285000	Weak transcription	HUVEC	blood vessel
24	chr11:86282000-86285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:86282000-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:86282000-86286000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:86282000-86288200	Weak transcription	Colonic Mucosa	Colon
28	chr11:86282000-86288400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:86282200-86285600	Weak transcription	Spleen	Spleen
30	chr11:86282400-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:86282400-86287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:86283000-86285400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:86283000-86285600	Weak transcription	Lung	lung
34	chr11:86283200-86285000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:86283200-86285400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr11:86283400-86285200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:86283400-86289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:86283400-86289400	Weak transcription	Stomach Mucosa	stomach
39	chr11:86283600-86285400	Weak transcription	A549	lung
40	chr11:86283600-86285600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:86283600-86288200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr11:86285000-86286000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:86285000-86288800	Enhancers	HUVEC	blood vessel
44	chr11:86285200-86285800	Enhancers	Hela-S3	cervix
45	chr11:86285200-86286200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:86285400-86285600	Weak transcription	NH-A	brain
47	chr11:86285400-86285800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:86285400-86286200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:86285400-86286200	Enhancers	Fetal Muscle Leg	muscle
50	chr11:86285400-86286800	Enhancers	NHDF-Ad	bronchial

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