Variant report

Variant	esv3498293
Chromosome Location	chr11:86285433-86287994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86287937..86289819-chr11:86294344..86297343,2	MCF-7	breast:
2	chr11:86285976..86287836-chr11:86291866..86294445,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376268650	chr11:86285439-86285440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547530751	chr11:86285440-86285441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570327505	chr11:86285441-86285442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376225350	chr11:86285442-86285443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546436065	chr11:86285443-86285444	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372758386	chr11:86285444-86285445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113253127	chr11:86285445-86285446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536249042	chr11:86285446-86285447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376489722	chr11:86285451-86285452	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377243414	chr11:86285452-86285453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141311767	chr11:86285454-86285455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs36030892	chr11:86285461-86285462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569660324	chr11:86285518-86285519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556053644	chr11:86285528-86285529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182882517	chr11:86285529-86285530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558664904	chr11:86285536-86285537	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186817228	chr11:86285558-86285559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189678783	chr11:86285567-86285568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554869332	chr11:86285587-86285588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574598265	chr11:86285623-86285624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374419445	chr11:86285821-86285822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543806733	chr11:86285824-86285825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10898501	chr11:86285825-86285826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs183246464	chr11:86285830-86285831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140151338	chr11:86285849-86285850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559388839	chr11:86285850-86285851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187639997	chr11:86285884-86285885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76593006	chr11:86285915-86285916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376430033	chr11:86285962-86285963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531151077	chr11:86285963-86285964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370392363	chr11:86285964-86285965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145669144	chr11:86286009-86286010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371364505	chr11:86286023-86286024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147654574	chr11:86286108-86286109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561396820	chr11:86286169-86286170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149151449	chr11:86286181-86286182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552315578	chr11:86286195-86286196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565752587	chr11:86286258-86286259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs4144867	chr11:86286401-86286402	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79053504	chr11:86286412-86286413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142338581	chr11:86286461-86286462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs151283698	chr11:86286495-86286496	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571421116	chr11:86286553-86286554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576857819	chr11:86286565-86286566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545766467	chr11:86286616-86286617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368370554	chr11:86286641-86286642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140275982	chr11:86286683-86286684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs565355324	chr11:86286781-86286782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145423509	chr11:86286790-86286791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542302254	chr11:86286797-86286798	Weak transcription Enhancers	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:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
2	chr11:86271000-86285600	Weak transcription	Right Ventricle	heart
3	chr11:86271000-86291200	Weak transcription	Gastric	stomach
4	chr11:86272400-86285600	Weak transcription	Psoas Muscle	Psoas
5	chr11:86275400-86299400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr11:86276400-86299800	Weak transcription	Fetal Brain Male	brain
7	chr11:86277400-86287400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:86277400-86287600	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:86277400-86289400	Weak transcription	Brain Anterior Caudate	brain
10	chr11:86279000-86285600	Weak transcription	Adipose Nuclei	Adipose
11	chr11:86279000-86289000	Weak transcription	NHEK	skin
12	chr11:86279400-86285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:86279400-86285600	Weak transcription	Fetal Stomach	stomach
14	chr11:86279400-86285600	Weak transcription	Ovary	ovary
15	chr11:86279800-86288000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:86280000-86285600	Weak transcription	Pancreas	Pancrea
17	chr11:86280600-86285600	Weak transcription	Left Ventricle	heart
18	chr11:86281400-86289200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:86282000-86285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:86282000-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:86282000-86286000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:86282000-86288200	Weak transcription	Colonic Mucosa	Colon
23	chr11:86282000-86288400	Weak transcription	Fetal Intestine Small	intestine
24	chr11:86282200-86285600	Weak transcription	Spleen	Spleen
25	chr11:86282400-86285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:86282400-86287600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:86283000-86285600	Weak transcription	Lung	lung
28	chr11:86283400-86289400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:86283400-86289400	Weak transcription	Stomach Mucosa	stomach
30	chr11:86283600-86285600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr11:86283600-86288200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:86285000-86286000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:86285000-86288800	Enhancers	HUVEC	blood vessel
34	chr11:86285200-86285800	Enhancers	Hela-S3	cervix
35	chr11:86285200-86286200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:86285400-86285600	Weak transcription	NH-A	brain
37	chr11:86285400-86285800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr11:86285400-86286200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:86285400-86286200	Enhancers	Fetal Muscle Leg	muscle
40	chr11:86285400-86286800	Enhancers	NHDF-Ad	bronchial
41	chr11:86285400-86287000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:86285400-86288400	Enhancers	A549	lung
43	chr11:86285400-86288800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:86285400-86288800	Enhancers	Right Atrium	heart
45	chr11:86285600-86285800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:86285600-86285800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:86285600-86285800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:86285600-86285800	Enhancers	Psoas Muscle	Psoas
49	chr11:86285600-86285800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:86285600-86286000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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