Variant report

Variant	rs11144971
Chromosome Location	chr9:79223252-79223253
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10512062	0.93[GIH][hapmap];0.83[MKK][hapmap]
rs10869786	1.00[ASN][1000 genomes]
rs10869787	1.00[ASN][1000 genomes]
rs11144973	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11144974	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144975	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11144976	1.00[ASN][1000 genomes]
rs11144977	1.00[ASN][1000 genomes]
rs11144978	1.00[ASN][1000 genomes]
rs59473137	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][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:25 , 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	chr9:79222400-79224000	Enhancers	Fetal Intestine Large	intestine
18	chr9:79222400-79225600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:79222600-79223800	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:79222800-79223600	Enhancers	Primary B cells from cord blood	blood
21	chr9:79222800-79223800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr9:79222800-79224000	Enhancers	Fetal Intestine Small	intestine
23	chr9:79223000-79223600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr9:79223000-79224200	Enhancers	Primary hematopoietic stem cells	blood
25	chr9:79223200-79223400	Enhancers	Primary B cells from peripheral blood	blood

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