Variant report

Variant	rs11227516
Chromosome Location	chr11:66296114-66296115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66291040..66297271-chr11:66298915..66306467,9	K562	blood:
2	chr11:66294722..66297580-chr11:66298960..66300977,3	MCF-7	breast:
3	chr11:66294522..66296830-chr11:66304750..66307400,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269990	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11227481	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs11227504	0.89[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs11227532	0.84[LWK][hapmap];0.89[YRI][hapmap];0.85[ASN][1000 genomes]
rs11227539	0.89[YRI][hapmap]
rs12222434	0.93[ASN][1000 genomes]
rs12223171	0.85[ASN][1000 genomes]
rs2290462	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs3782080	0.85[ASN][1000 genomes]
rs3814735	0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3814736	0.97[ASN][1000 genomes]
rs3892817	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
2	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11227516	MRPL11	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66278600-66311000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:66278800-66309800	Weak transcription	HSMMtube	muscle
3	chr11:66278800-66312800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:66279000-66303000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:66279000-66306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:66279000-66309200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:66279000-66313000	Weak transcription	Small Intestine	intestine
8	chr11:66279200-66309800	Weak transcription	HUVEC	blood vessel
9	chr11:66279200-66310400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:66279200-66310800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:66279400-66311000	Weak transcription	Fetal Brain Male	brain
13	chr11:66279400-66311200	Weak transcription	Right Atrium	heart
14	chr11:66279800-66305200	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:66281000-66311000	Strong transcription	Fetal Stomach	stomach
16	chr11:66282000-66309600	Weak transcription	NHDF-Ad	bronchial
17	chr11:66283400-66312800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:66286200-66301000	Strong transcription	Placenta	Placenta
19	chr11:66286200-66301200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:66287400-66299200	Weak transcription	HepG2	liver
21	chr11:66289000-66308200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:66289000-66309800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr11:66289000-66312800	Weak transcription	Stomach Mucosa	stomach
24	chr11:66290200-66310800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr11:66290800-66302800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:66291000-66298600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:66291000-66303000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:66291000-66309800	Weak transcription	HSMM	muscle
29	chr11:66291200-66302800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:66291200-66303200	Weak transcription	Left Ventricle	heart
31	chr11:66291200-66306200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:66291200-66309800	Weak transcription	NH-A	brain
33	chr11:66291200-66311600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:66291400-66296800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:66291400-66296800	Weak transcription	Colonic Mucosa	Colon
36	chr11:66291400-66297000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:66291400-66300000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:66291400-66303200	Weak transcription	Osteobl	bone
39	chr11:66291400-66304200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:66291400-66304400	Weak transcription	Psoas Muscle	Psoas
41	chr11:66291400-66305800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:66291400-66305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:66291400-66309400	Weak transcription	A549	lung
44	chr11:66291400-66309600	Weak transcription	GM12878-XiMat	blood
45	chr11:66291400-66311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:66291600-66296600	Weak transcription	Gastric	stomach
47	chr11:66291600-66299400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr11:66291600-66306200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr11:66291600-66309200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr11:66291600-66309800	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links