Variant report

Variant	esv3356316
Chromosome Location	chr11:64403226-64404574
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	11:64187725-64189071..11:64402707-64415880	K562	blood:

Variant related genes	Relation type
ENSG00000231492	chromatin interactions

Extended variants
information (count: 36 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562653875	chr11:64403228-64403229	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367967738	chr11:64403247-64403248	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs180835430	chr11:64403251-64403252	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545434473	chr11:64403413-64403414	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565432817	chr11:64403416-64403417	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528020604	chr11:64403422-64403423	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145547247	chr11:64403423-64403424	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs561437194	chr11:64403435-64403436	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs12788259	chr11:64403674-64403675	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12788261	chr11:64403676-64403677	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs530331808	chr11:64403737-64403738	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs58184646	chr11:64403872-64403873	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs183772681	chr11:64403909-64403910	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189176060	chr11:64403954-64403955	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs2957561	chr11:64403974-64403975	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373777973	chr11:64403987-64403988	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs571958847	chr11:64404049-64404050	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs536857066	chr11:64404074-64404075	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs182416457	chr11:64404099-64404100	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2959655	chr11:64404155-64404156	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs565814582	chr11:64404185-64404186	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12278771	chr11:64404214-64404215	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs554584296	chr11:64404216-64404217	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574254879	chr11:64404248-64404249	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs573748580	chr11:64404272-64404273	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs556238303	chr11:64404297-64404298	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367621237	chr11:64404312-64404313	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576172487	chr11:64404315-64404316	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540980353	chr11:64404358-64404359	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs545055608	chr11:64404362-64404363	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576389246	chr11:64404377-64404378	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572368598	chr11:64404433-64404434	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs200218304	chr11:64404444-64404445	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541678631	chr11:64404466-64404467	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs561579047	chr11:64404547-64404548	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs530272220	chr11:64404551-64404552	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64388000-64404600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:64388600-64405400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:64388800-64405400	Weak transcription	Right Atrium	heart
4	chr11:64389200-64405200	Weak transcription	Fetal Kidney	kidney
5	chr11:64389600-64404800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:64390200-64405000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:64394200-64403400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:64395200-64404400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:64395800-64403400	Strong transcription	Osteobl	bone
10	chr11:64397400-64404200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:64397400-64406000	Weak transcription	NHDF-Ad	bronchial
12	chr11:64399000-64403400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:64399800-64404400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr11:64400200-64408200	Weak transcription	HSMM	muscle
15	chr11:64400600-64404200	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:64400600-64405000	Enhancers	Fetal Thymus	thymus
17	chr11:64400800-64403400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:64401000-64403400	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr11:64401400-64405000	Weak transcription	Fetal Lung	lung
20	chr11:64401800-64403400	Strong transcription	Brain Hippocampus Middle	brain
21	chr11:64401800-64404200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:64401800-64404400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:64401800-64405800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:64402000-64405000	Weak transcription	Primary B cells from cord blood	blood
25	chr11:64402400-64404400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr11:64402400-64405200	Weak transcription	Spleen	Spleen
27	chr11:64402600-64403400	Genic enhancers	Fetal Stomach	stomach
28	chr11:64402600-64404000	Weak transcription	Brain Anterior Caudate	brain
29	chr11:64402600-64404200	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:64402600-64405200	Enhancers	Fetal Brain Male	brain
31	chr11:64402600-64405800	Weak transcription	HSMMtube	muscle
32	chr11:64402800-64403400	Enhancers	Fetal Intestine Small	intestine
33	chr11:64402800-64404000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:64402800-64404000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:64402800-64404200	Weak transcription	Brain Angular Gyrus	brain
36	chr11:64402800-64404200	Weak transcription	Brain Substantia Nigra	brain
37	chr11:64402800-64404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:64402800-64405200	Weak transcription	Ovary	ovary
39	chr11:64403000-64403600	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:64403000-64404000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:64403000-64404800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:64403000-64410400	Weak transcription	Aorta	Aorta
43	chr11:64403200-64403400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr11:64403200-64403400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
45	chr11:64403200-64403400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
46	chr11:64403200-64404200	Weak transcription	Fetal Intestine Large	intestine
47	chr11:64403200-64404800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:64403200-64404800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:64403200-64405000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr11:64403200-64407400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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