Variant report

Variant	rs4147052
Chromosome Location	chr9:117972516-117972517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10982595	0.84[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10982604	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10982606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982609	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10982614	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs10982616	0.91[CHB][hapmap]
rs1110169	0.95[CEU][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12379021	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12682693	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13292941	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537732	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17244791	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888672	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888673	0.90[CEU][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2183702	0.95[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34541555	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4147050	0.81[MKK][hapmap]
rs4978628	0.95[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6478145	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs6478149	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7860900	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7866181	0.85[CEU][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap]

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	nsv615250	chr9:117768021-118012841	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv916912	chr9:117770039-118014140	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv831697	chr9:117860416-118023927	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription 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	4 gene(s)	inside rSNPs	diseases
4	nsv893769	chr9:117936903-117985886	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117960800-117975800	Weak transcription	Fetal Kidney	kidney
2	chr9:117962200-117972600	Enhancers	NHDF-Ad	bronchial
3	chr9:117963000-117972600	Enhancers	NHEK	skin
4	chr9:117963000-117972600	Enhancers	Osteobl	bone
5	chr9:117963000-117977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:117964600-117972800	Enhancers	NH-A	brain
7	chr9:117966000-117973800	Weak transcription	Colon Smooth Muscle	Colon
8	chr9:117966200-117973600	Weak transcription	Fetal Stomach	stomach
9	chr9:117966400-117972800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:117967000-117972600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:117967800-117979400	Weak transcription	Aorta	Aorta
12	chr9:117969000-117975400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:117969000-117976800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:117969200-117975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:117969400-117974600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:117969400-117976000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr9:117969600-117973800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr9:117969600-117973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:117969600-117973800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:117969600-117973800	Weak transcription	Placenta	Placenta
21	chr9:117969800-117973800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr9:117969800-117973800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr9:117970000-117973800	Enhancers	GM12878-XiMat	blood
24	chr9:117970800-117973600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr9:117970800-117973800	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:117971000-117973000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:117971000-117973800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:117971400-117973800	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:117971600-117973600	Weak transcription	Fetal Lung	lung
30	chr9:117972000-117973200	Enhancers	Liver	Liver
31	chr9:117972200-117973600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:117972200-117973600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:117972200-117973600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr9:117972200-117973600	Weak transcription	HSMM	muscle
35	chr9:117972200-117973800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr9:117972200-117973800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:117972200-117973800	Weak transcription	Gastric	stomach
38	chr9:117972400-117973200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:117972400-117973600	Weak transcription	NHLF	lung
40	chr9:117972400-117973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:117972400-117973800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr9:117972400-117974000	Weak transcription	HMEC	breast
43	chr9:117972400-117976400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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