Variant report

Variant	esv3410454
Chromosome Location	chr11:119932099-119933049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576787681	chr11:119932099-119932100	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs544206548	chr11:119932105-119932106	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs10892527	chr11:119932137-119932138	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs144229333	chr11:119932176-119932177	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs148951160	chr11:119932229-119932230	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs143772798	chr11:119932230-119932231	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs528317375	chr11:119932282-119932283	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs375188950	chr11:119932292-119932293	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs546880882	chr11:119932370-119932371	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs117866439	chr11:119932396-119932397	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115352233	chr11:119932455-119932456	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558760340	chr11:119932497-119932498	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191006145	chr11:119932499-119932500	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529778034	chr11:119932523-119932524	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548006528	chr11:119932557-119932558	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs896690	chr11:119932578-119932579	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs534136082	chr11:119932590-119932591	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138455681	chr11:119932601-119932602	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114461031	chr11:119932617-119932618	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs386758108	chr11:119932649-119932650	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201414057	chr11:119932654-119932655	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375867538	chr11:119932656-119932657	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71050717	chr11:119932660-119932661	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386758109	chr11:119932661-119932662	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538189906	chr11:119932663-119932664	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547816629	chr11:119932672-119932673	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556506880	chr11:119932752-119932753	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183166647	chr11:119932757-119932758	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574769331	chr11:119932806-119932807	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562401239	chr11:119932807-119932808	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs563239114	chr11:119932827-119932828	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs553988875	chr11:119932838-119932839	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186331222	chr11:119932893-119932894	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs540430612	chr11:119932903-119932904	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs1320685	chr11:119932930-119932931	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142644079	chr11:119932957-119932958	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73571875	chr11:119932961-119932962	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562481110	chr11:119932997-119932998	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529676906	chr11:119933021-119933022	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548229084	chr11:119933047-119933048	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190645945	chr11:119933049-119933050	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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
Cancer	22429812	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Mental retardation	19966786	CNVD
Non-small cell lung cancer	21829676	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Neuroblastoma	17327916	CNVD
Malignant melanoma	17260012	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Renal cell carcinoma	21668985	CNVD
Developmental delay	21147756	CNVD
Emanuel syndrome	21549014	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Acute lymphoblastic leukemia	22581003	CNVD
Ovarian neoplasms	16753589	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Retinoblastoma	22278416	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Squamous cell cancer	20885788	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Neurocytoma	17123091	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Central neurocytomas	17123091	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Hepatocellular carcinoma	16750200	CNVD
Multiple myeloma	17550852	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Acute myeloid leukemia	19651601	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	20409316	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Heart disease	20551144	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119922600-119936000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:119925000-119934200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:119927800-119932800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:119927800-119932800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:119928400-119932200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:119928800-119932400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:119929000-119932200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:119929000-119932400	Weak transcription	Fetal Brain Male	brain
9	chr11:119929000-119932400	Weak transcription	Fetal Brain Female	brain
10	chr11:119929200-119932600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:119929200-119932800	Weak transcription	HMEC	breast
12	chr11:119929400-119932800	Weak transcription	Esophagus	oesophagus
13	chr11:119929400-119932800	Weak transcription	NHEK	skin
14	chr11:119929400-119934000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:119929600-119932200	Weak transcription	Brain Germinal Matrix	brain
16	chr11:119930200-119932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:119930600-119932200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:119930600-119932600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:119931400-119933200	Enhancers	HSMMtube	muscle
20	chr11:119931400-119934000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:119931600-119932800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:119931600-119933200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:119931600-119933400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:119931600-119933400	Enhancers	NH-A	brain
25	chr11:119931600-119933600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr11:119931600-119933800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:119931800-119933400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr11:119931800-119935200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:119932000-119932400	Bivalent Enhancer	HSMM	muscle
30	chr11:119932000-119933600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:119932000-119935000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:119932200-119932800	Enhancers	Brain Germinal Matrix	brain
33	chr11:119932200-119932800	Enhancers	Spleen	Spleen
34	chr11:119932200-119933600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr11:119932200-119933600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr11:119932200-119933600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:119932200-119933600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:119932200-119933600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
39	chr11:119932200-119934200	Bivalent Enhancer	Fetal Stomach	stomach
40	chr11:119932400-119933000	Enhancers	Fetal Brain Female	brain
41	chr11:119932400-119933600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:119932400-119933600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr11:119932400-119933800	Enhancers	Fetal Kidney	kidney
44	chr11:119932400-119933800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:119932400-119935400	Enhancers	Fetal Brain Male	brain
46	chr11:119932600-119933000	Bivalent Enhancer	Colonic Mucosa	Colon
47	chr11:119932600-119933600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:119932600-119933600	Bivalent Enhancer	Fetal Intestine Small	intestine
49	chr11:119932600-119933800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:119932600-119933800	Enhancers	Brain Inferior Temporal Lobe	brain

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