Variant report

Variant	esv3398057
Chromosome Location	chr11:77055162-77055738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536294449	chr11:77055179-77055180	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143299370	chr11:77055195-77055196	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565165215	chr11:77055212-77055213	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146721294	chr11:77055231-77055232	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376223741	chr11:77055270-77055271	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140341567	chr11:77055300-77055301	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573811647	chr11:77055349-77055350	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369481762	chr11:77055364-77055365	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561056595	chr11:77055365-77055366	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184788969	chr11:77055366-77055367	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114252553	chr11:77055378-77055379	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560704296	chr11:77055381-77055382	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532730322	chr11:77055412-77055413	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149956988	chr11:77055455-77055456	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111512814	chr11:77055483-77055484	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556365556	chr11:77055532-77055533	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145044760	chr11:77055551-77055552	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548159482	chr11:77055558-77055559	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568182461	chr11:77055568-77055569	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533835767	chr11:77055607-77055608	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553718141	chr11:77055614-77055615	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs685991	chr11:77055637-77055638	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs686068	chr11:77055700-77055701	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs188646795	chr11:77055705-77055706	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149114878	chr11:77055734-77055735	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
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
Prostate cancer	18632612	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Usher syndrome	18421352	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77028000-77068400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:77028200-77066000	Weak transcription	Fetal Kidney	kidney
3	chr11:77030600-77086800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:77031600-77066400	Weak transcription	Gastric	stomach
5	chr11:77031600-77073800	Weak transcription	Spleen	Spleen
6	chr11:77031800-77070400	Weak transcription	Fetal Brain Male	brain
7	chr11:77032200-77066400	Weak transcription	Lung	lung
8	chr11:77033400-77067200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:77033400-77090400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:77033800-77059200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:77034400-77059200	Weak transcription	Psoas Muscle	Psoas
12	chr11:77034400-77086200	Weak transcription	NHLF	lung
13	chr11:77034800-77063800	Weak transcription	Brain Substantia Nigra	brain
14	chr11:77034800-77064000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:77041800-77056600	Weak transcription	HSMMtube	muscle
16	chr11:77042800-77080800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:77043000-77056200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:77043000-77061000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:77043200-77055400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:77043400-77056800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:77043400-77066400	Weak transcription	Esophagus	oesophagus
22	chr11:77043400-77072600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:77043400-77074800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:77043400-77082400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:77043400-77083600	Weak transcription	Thymus	Thymus
26	chr11:77043600-77060800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:77043800-77056400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:77043800-77071400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:77043800-77088400	Weak transcription	Colonic Mucosa	Colon
30	chr11:77044000-77055800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:77044000-77056400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:77044000-77057800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:77044000-77061800	Weak transcription	Stomach Mucosa	stomach
34	chr11:77044000-77062000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:77044200-77062000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:77044200-77075000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:77044600-77071600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr11:77045400-77056200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:77045400-77062200	Strong transcription	GM12878-XiMat	blood
40	chr11:77046200-77077000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:77046200-77092400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr11:77046800-77121600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr11:77047200-77096000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:77047400-77089000	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr11:77047400-77090000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:77047800-77056200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:77047800-77057800	Weak transcription	NHEK	skin
48	chr11:77047800-77063800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:77047800-77066400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:77047800-77066400	Weak transcription	A549	lung

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