Variant report

Variant	esv1831273
Chromosome Location	chr11:66711949-66713386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66712201..66714524-chr11:66716191..66718681,3	K562	blood:
2	chr11:66712970..66715747-chr11:66721336..66723431,2	K562	blood:
3	chr11:66712628..66714524-chr11:66717181..66719524,2	K562	blood:

Variant related genes	Relation type
ENSG00000173599	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559836536	chr11:66712085-66712086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150588985	chr11:66712183-66712184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7107365	chr11:66712310-66712311	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568661839	chr11:66712386-66712387	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531093649	chr11:66712467-66712468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551132006	chr11:66712473-66712474	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570938743	chr11:66712492-66712493	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113829160	chr11:66712534-66712535	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117467632	chr11:66712540-66712541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530118097	chr11:66712577-66712578	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs138670422	chr11:66712599-66712600	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548336466	chr11:66712771-66712772	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35456030	chr11:66712889-66712890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113748384	chr11:66712893-66712894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200171845	chr11:66712897-66712898	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5792398	chr11:66712900-66712901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76060760	chr11:66712902-66712903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76280286	chr11:66712903-66712904	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4930398	chr11:66712923-66712924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535741787	chr11:66712986-66712987	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555343664	chr11:66713206-66713207	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142903017	chr11:66713210-66713211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs114039142	chr11:66713243-66713244	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs376884154	chr11:66713270-66713271	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557477952	chr11:66713283-66713284	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11607533	chr11:66713284-66713285	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9667784	chr11:66713286-66713287	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs187799027	chr11:66713309-66713310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367605909	chr11:66713323-66713324	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563804021	chr11:66713357-66713358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201078861	chr11:66713373-66713374	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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
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
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66689200-66719400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:66694400-66718000	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:66696800-66717600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:66696800-66717600	Weak transcription	NHDF-Ad	bronchial
5	chr11:66701200-66712400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:66701200-66724200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:66701600-66717600	Weak transcription	Brain Anterior Caudate	brain
8	chr11:66701800-66717600	Weak transcription	HSMMtube	muscle
9	chr11:66701800-66719600	Weak transcription	Brain Substantia Nigra	brain
10	chr11:66702600-66717600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:66702600-66717600	Weak transcription	Gastric	stomach
12	chr11:66702800-66717600	Weak transcription	NHEK	skin
13	chr11:66702800-66718200	Weak transcription	Fetal Brain Female	brain
14	chr11:66702800-66723600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:66703000-66717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:66703000-66717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:66703200-66717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:66703200-66718400	Weak transcription	Ovary	ovary
19	chr11:66703400-66714200	Weak transcription	Adipose Nuclei	Adipose
20	chr11:66703400-66717400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:66703800-66714000	Weak transcription	Osteobl	bone
22	chr11:66704200-66717400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:66704200-66717600	Weak transcription	NHLF	lung
24	chr11:66704400-66717400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr11:66704400-66717600	Weak transcription	HepG2	liver
26	chr11:66705000-66717400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:66705000-66717600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:66705000-66717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:66705200-66713600	Weak transcription	A549	lung
30	chr11:66705200-66717400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:66705600-66717200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:66706600-66719400	Weak transcription	Fetal Heart	heart
33	chr11:66707000-66717200	Weak transcription	K562	blood
34	chr11:66707400-66717800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:66707400-66717800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:66707600-66712200	Weak transcription	Hela-S3	cervix
37	chr11:66707800-66715400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:66708000-66724200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:66708200-66724200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:66708600-66717400	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:66708600-66724200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr11:66708600-66724200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr11:66708800-66714200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:66708800-66718400	Weak transcription	Stomach Mucosa	stomach
45	chr11:66709000-66717800	Weak transcription	Primary T cells from cord blood	blood
46	chr11:66709200-66717600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr11:66709200-66719600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:66709400-66718400	Weak transcription	Fetal Intestine Small	intestine
49	chr11:66709400-66724400	Weak transcription	Brain Germinal Matrix	brain
50	chr11:66710200-66714200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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