Variant report

Variant	rs11144975
Chromosome Location	chr9:79224304-79224305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10512062	0.93[GIH][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap];0.80[YRI][hapmap]
rs10869786	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10869787	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11144971	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144973	1.00[ASN][1000 genomes]
rs11144974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144976	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11144977	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11144978	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1425286	0.89[YRI][hapmap];0.84[AFR][1000 genomes]
rs3174372	0.84[AFR][1000 genomes]
rs3174373	0.84[AFR][1000 genomes]
rs59473137	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73650263	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79211000-79229200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:79211400-79225000	Weak transcription	Gastric	stomach
3	chr9:79215400-79224400	Weak transcription	Stomach Mucosa	stomach
4	chr9:79215400-79229400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr9:79216000-79226600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:79218600-79224600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:79218800-79227200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:79219000-79224600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:79219000-79224600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:79219000-79224600	Weak transcription	Osteobl	bone
11	chr9:79219200-79224400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:79220200-79227400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr9:79221000-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:79221200-79229800	Weak transcription	GM12878-XiMat	blood
15	chr9:79222200-79225600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr9:79222200-79225600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr9:79222400-79225600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr9:79223600-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:79223600-79230200	Weak transcription	Primary B cells from cord blood	blood
20	chr9:79223800-79224800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr9:79223800-79225000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr9:79223800-79225400	Enhancers	Colon Smooth Muscle	Colon
23	chr9:79224000-79224400	Flanking Active TSS	Fetal Intestine Small	intestine
24	chr9:79224000-79224600	Enhancers	Brain Angular Gyrus	brain
25	chr9:79224000-79224800	Active TSS	Duodenum Mucosa	Duodenum
26	chr9:79224000-79225400	Enhancers	Brain Hippocampus Middle	brain
27	chr9:79224000-79225600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:79224000-79226800	Active TSS	Fetal Intestine Large	intestine
29	chr9:79224200-79224600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:79224200-79224600	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:79224200-79224800	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr9:79224200-79224800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr9:79224200-79225200	Enhancers	Brain Anterior Caudate	brain
34	chr9:79224200-79225200	Enhancers	Brain Substantia Nigra	brain
35	chr9:79224200-79225600	Enhancers	Fetal Lung	lung
36	chr9:79224200-79225800	Enhancers	Small Intestine	intestine
37	chr9:79224200-79229000	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links