Variant report

Variant	rs1227995
Chromosome Location	chr11:47960210-47960211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1227996	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1228024	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1631174	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1681630	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
3	nsv1036992	chr11:47794621-48666024	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv897326	chr11:47891334-48035474	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036451	chr11:47902321-48616646	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv541037	chr11:47902321-48616646	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1047490	chr11:47916708-48388686	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv1044266	chr11:47929586-48276132	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv541038	chr11:47929586-48276132	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47950400-47963600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:47950800-47971800	Weak transcription	Fetal Thymus	thymus
3	chr11:47954400-47968200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:47956800-47970200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr11:47957600-47960600	Enhancers	HepG2	liver
6	chr11:47957800-47963400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:47958400-47960600	Enhancers	Placenta	Placenta
8	chr11:47958400-47961400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:47958400-47961400	Enhancers	NHDF-Ad	bronchial
10	chr11:47958800-47960800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:47958800-47962400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:47959000-47961400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:47959000-47961400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr11:47959000-47961400	Flanking Active TSS	Hela-S3	cervix
15	chr11:47959000-47961400	Enhancers	Osteobl	bone
16	chr11:47959400-47960600	Enhancers	Liver	Liver
17	chr11:47959400-47960800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:47959600-47960600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:47959600-47960600	Enhancers	Spleen	Spleen
20	chr11:47959600-47960600	Enhancers	GM12878-XiMat	blood
21	chr11:47959600-47960800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:47959600-47961200	Enhancers	NH-A	brain
23	chr11:47959800-47960600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:47959800-47960600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:47959800-47962200	Enhancers	K562	blood
26	chr11:47959800-47962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:47959800-47963400	Enhancers	A549	lung
28	chr11:47959800-47968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:47960000-47960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:47960000-47960600	Weak transcription	NHLF	lung
31	chr11:47960000-47960800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:47960000-47963000	Weak transcription	Brain Substantia Nigra	brain
33	chr11:47960000-47965400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:47960000-47966000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:47960000-47967600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:47960000-47967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:47960000-47967800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:47960000-47972400	Weak transcription	Lung	lung
39	chr11:47960200-47961400	Weak transcription	HUVEC	blood vessel
40	chr11:47960200-47963200	Weak transcription	Primary B cells from cord blood	blood

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