Variant report

Variant	esv3402099
Chromosome Location	chr11:64373126-64375274
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	chr11:64372156..64374370-chr11:64385204..64388133,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369143674	chr11:64373129-64373130	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576327452	chr11:64373166-64373167	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540908051	chr11:64373167-64373168	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189795433	chr11:64373168-64373169	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558847015	chr11:64373219-64373220	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537066820	chr11:64373232-64373233	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550911816	chr11:64373303-64373304	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572620760	chr11:64373310-64373311	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541290611	chr11:64373342-64373343	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554632171	chr11:64373409-64373410	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182407860	chr11:64373420-64373421	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs17146110	chr11:64373429-64373430	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563276138	chr11:64373445-64373446	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370752770	chr11:64373452-64373453	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536594365	chr11:64373453-64373454	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35124354	chr11:64373482-64373483	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553294016	chr11:64373483-64373484	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7932437	chr11:64373504-64373505	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs559254946	chr11:64373544-64373545	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71579873	chr11:64373625-64373626	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139048717	chr11:64373644-64373645	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11231840	chr11:64373656-64373657	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567414758	chr11:64373664-64373665	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530183218	chr11:64373673-64373674	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549720516	chr11:64373689-64373690	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376828237	chr11:64373753-64373754	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569728034	chr11:64373765-64373766	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538932866	chr11:64373838-64373839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17146119	chr11:64373899-64373900	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs71579872	chr11:64373988-64373989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368881089	chr11:64374020-64374021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12793675	chr11:64374031-64374032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374049531	chr11:64374127-64374128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs3741399	chr11:64374241-64374242	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575262889	chr11:64374259-64374260	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs187890418	chr11:64374310-64374311	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs55706123	chr11:64374312-64374313	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs556979461	chr11:64374402-64374403	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543872434	chr11:64374420-64374421	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545502255	chr11:64374470-64374471	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147590275	chr11:64374485-64374486	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528383189	chr11:64374486-64374487	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563001503	chr11:64374487-64374488	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111920356	chr11:64374502-64374503	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561591562	chr11:64374505-64374506	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371366016	chr11:64374510-64374511	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76259341	chr11:64374534-64374535	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549892891	chr11:64374571-64374572	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569838763	chr11:64374572-64374573	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532504526	chr11:64374594-64374595	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64368200-64375200	Weak transcription	Right Atrium	heart
2	chr11:64370800-64376000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:64371800-64374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:64372400-64373400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr11:64372400-64373600	Genic enhancers	Brain Germinal Matrix	brain
6	chr11:64372600-64373800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr11:64372800-64373200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:64372800-64373400	Enhancers	Spleen	Spleen
9	chr11:64372800-64373600	Enhancers	HSMMtube	muscle
10	chr11:64372800-64373800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr11:64372800-64373800	Enhancers	Ovary	ovary
12	chr11:64373000-64373200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:64373000-64373400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:64373000-64373600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:64373000-64373800	Strong transcription	Fetal Brain Female	brain
16	chr11:64373000-64373800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr11:64373000-64376800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:64373200-64373400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64373200-64373400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
20	chr11:64373200-64373600	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr11:64373200-64375600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:64373400-64373600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:64373400-64373800	Bivalent Enhancer	Fetal Stomach	stomach
24	chr11:64373400-64375600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:64373400-64377200	Weak transcription	Spleen	Spleen
26	chr11:64373400-64379000	Weak transcription	Brain Hippocampus Middle	brain
27	chr11:64373600-64374400	Weak transcription	Brain Germinal Matrix	brain
28	chr11:64373600-64374400	Enhancers	Osteobl	bone
29	chr11:64373600-64376200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:64373600-64402200	Weak transcription	HSMMtube	muscle
31	chr11:64373800-64374400	Weak transcription	Fetal Brain Female	brain
32	chr11:64373800-64374800	Weak transcription	Ovary	ovary
33	chr11:64373800-64375200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:64373800-64376200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:64374200-64374400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:64374200-64376400	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:64374200-64376600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64374400-64374600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:64374400-64374600	Strong transcription	Fetal Brain Female	brain
40	chr11:64374400-64374800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:64374400-64374800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:64374400-64374800	Bivalent Enhancer	Fetal Stomach	stomach
43	chr11:64374400-64375200	Genic enhancers	Brain Germinal Matrix	brain
44	chr11:64374400-64375400	Weak transcription	Osteobl	bone
45	chr11:64374400-64375800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr11:64374400-64376400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:64374600-64374800	Bivalent Enhancer	Fetal Muscle Leg	muscle
48	chr11:64374600-64375200	Weak transcription	Fetal Brain Female	brain
49	chr11:64374600-64375400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:64374600-64376400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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