Variant report

Variant	esv3411552
Chromosome Location	chr11:59962126-59964224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7926344	chr11:59962166-59962167	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7926354	chr11:59962189-59962190	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs188082206	chr11:59962190-59962191	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs534054600	chr11:59962191-59962192	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71488445	chr11:59962240-59962241	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557251893	chr11:59962265-59962266	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111252727	chr11:59962283-59962284	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs544287651	chr11:59962327-59962328	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371595493	chr11:59962341-59962342	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562850821	chr11:59962378-59962379	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138324876	chr11:59962390-59962391	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12288390	chr11:59962395-59962396	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560425579	chr11:59962476-59962477	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs527462800	chr11:59962477-59962478	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149650618	chr11:59962493-59962494	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560956877	chr11:59962502-59962503	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs531396824	chr11:59962504-59962505	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549516394	chr11:59962523-59962524	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs144327470	chr11:59962525-59962526	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs539778038	chr11:59962545-59962546	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs552028445	chr11:59962582-59962583	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs71036560	chr11:59962588-59962589	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs398016215	chr11:59962591-59962592	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs577992710	chr11:59962605-59962606	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566770506	chr11:59962661-59962662	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192729846	chr11:59962676-59962677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs555497706	chr11:59962709-59962710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs550930546	chr11:59962714-59962715	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs111674242	chr11:59962765-59962766	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs61901745	chr11:59962781-59962782	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs577956758	chr11:59962789-59962790	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs529622844	chr11:59962811-59962812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117923441	chr11:59962833-59962834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113521604	chr11:59962853-59962854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560465529	chr11:59962868-59962869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572312796	chr11:59962960-59962961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148344215	chr11:59962973-59962974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1834552	chr11:59963002-59963003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561020194	chr11:59963012-59963013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs142162751	chr11:59963023-59963024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549832135	chr11:59963048-59963049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs61650997	chr11:59963094-59963095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201086444	chr11:59963100-59963101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs655356	chr11:59963102-59963103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374115391	chr11:59963103-59963104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1426246	chr11:59963104-59963105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7482842	chr11:59963106-59963107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185247537	chr11:59963180-59963181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532130372	chr11:59963215-59963216	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs115515645	chr11:59963346-59963347	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	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
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Lung adenocarcinoma	17086460	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59960200-59965000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:59960400-59962800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:59960400-59965400	Enhancers	Dnd41	blood
4	chr11:59961000-59962400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:59961000-59962400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:59961000-59962400	Enhancers	HMEC	breast
7	chr11:59961000-59963600	Enhancers	Fetal Intestine Large	intestine
8	chr11:59961000-59963800	Enhancers	Primary B cells from cord blood	blood
9	chr11:59961000-59965000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:59961200-59962800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:59961200-59963600	Enhancers	Fetal Intestine Small	intestine
12	chr11:59961400-59962200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:59961400-59962400	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:59961400-59962400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr11:59961600-59962400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:59961600-59963600	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:59961600-59963600	Enhancers	Ovary	ovary
18	chr11:59961800-59962600	Flanking Active TSS	K562	blood
19	chr11:59962000-59962200	Flanking Active TSS	HUVEC	blood vessel
20	chr11:59962000-59962400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:59962000-59962400	Flanking Active TSS	GM12878-XiMat	blood
22	chr11:59962000-59962600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:59962200-59965000	Enhancers	HUVEC	blood vessel
24	chr11:59962400-59963200	Enhancers	GM12878-XiMat	blood
25	chr11:59962400-59963400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:59962400-59963400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:59962400-59963400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr11:59962600-59963400	Enhancers	K562	blood
29	chr11:59962800-59963200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:59962800-59963200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:59963200-59963800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:59963200-59963800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr11:59963200-59964000	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:59963400-59963600	Enhancers	Primary B cells from peripheral blood	blood
35	chr11:59963400-59963600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:59963400-59963800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr11:59963400-59963800	Flanking Active TSS	K562	blood
38	chr11:59963600-59964200	Weak transcription	Ovary	ovary
39	chr11:59963800-59964600	Enhancers	K562	blood
40	chr11:59963800-59965000	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:59964000-59964600	Enhancers	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links