Variant report

Variant	esv3471175
Chromosome Location	chr11:77254184-77256204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191178356	chr11:77254239-77254240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72943497	chr11:77254266-77254267	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs560570674	chr11:77254320-77254321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532675101	chr11:77254355-77254356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183020552	chr11:77254365-77254366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187472853	chr11:77254367-77254368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190904446	chr11:77254369-77254370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183147194	chr11:77254377-77254378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187434124	chr11:77254378-77254379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192240383	chr11:77254384-77254385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs12808816	chr11:77254386-77254387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185151215	chr11:77254388-77254389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188421763	chr11:77254394-77254395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192554760	chr11:77254395-77254396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556462080	chr11:77254406-77254407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576261713	chr11:77254410-77254411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535647033	chr11:77254439-77254440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555070948	chr11:77254440-77254441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574999739	chr11:77254451-77254452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540751237	chr11:77254519-77254520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560284899	chr11:77254553-77254554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372151686	chr11:77254651-77254652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554462277	chr11:77254665-77254666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546142537	chr11:77254672-77254673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111417756	chr11:77254675-77254676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11602520	chr11:77254720-77254721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs140812471	chr11:77254795-77254796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs146006791	chr11:77254823-77254824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552664596	chr11:77254826-77254827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138908986	chr11:77254833-77254834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562846990	chr11:77254843-77254844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142933313	chr11:77254920-77254921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570342823	chr11:77254940-77254941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539428302	chr11:77254972-77254973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188164363	chr11:77254980-77254981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147244034	chr11:77255038-77255039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569985383	chr11:77255069-77255070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535608761	chr11:77255082-77255083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73498854	chr11:77255130-77255131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs185041756	chr11:77255148-77255149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138676203	chr11:77255217-77255218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34181714	chr11:77255232-77255233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs199748344	chr11:77255256-77255257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149352617	chr11:77255286-77255287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12797573	chr11:77255306-77255307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs112742096	chr11:77255312-77255313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs116607042	chr11:77255322-77255323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs189387157	chr11:77255323-77255324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182191780	chr11:77255351-77255352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528376668	chr11:77255358-77255359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
Prostate cancer	18632612	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
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
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77249200-77258600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:77252600-77254400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:77253000-77254200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:77253200-77254600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:77253800-77259200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:77253800-77259200	Weak transcription	HSMMtube	muscle
7	chr11:77253800-77259200	Weak transcription	Osteobl	bone
8	chr11:77254000-77259200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:77254400-77259200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:77254600-77259000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:77255000-77255400	Enhancers	Fetal Intestine Large	intestine
12	chr11:77255000-77255600	Enhancers	Fetal Intestine Small	intestine
13	chr11:77255200-77255400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:77255400-77256600	Weak transcription	Fetal Intestine Large	intestine
15	chr11:77255400-77258400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:77255600-77258600	Weak transcription	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links