Variant report

Variant	rs4979511
Chromosome Location	chr9:117970100-117970101
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10739433	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10739434	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10759760	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10817722	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1335340	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1335344	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1335345	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1335351	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1335354	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1335355	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1335356	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1335360	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1360823	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1414138	0.86[EUR][1000 genomes]
rs1414148	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1414150	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1537731	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1591422	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1591423	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4978625	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4978626	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4979508	0.85[EUR][1000 genomes]
rs6478147	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6478150	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6478151	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6478152	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6478153	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7027442	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7027882	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7031000	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7043594	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7043679	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7044001	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7044556	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7045288	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7045508	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7045599	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7357796	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7470092	0.82[EUR][1000 genomes]
rs945258	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][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	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:39 , 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	chr9:117962400-117972400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr9:117963000-117972600	Enhancers	NHEK	skin
5	chr9:117963000-117972600	Enhancers	Osteobl	bone
6	chr9:117963000-117977200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr9:117964600-117972800	Enhancers	NH-A	brain
8	chr9:117965200-117972400	Enhancers	HMEC	breast
9	chr9:117966000-117970400	Weak transcription	Fetal Muscle Leg	muscle
10	chr9:117966000-117973800	Weak transcription	Colon Smooth Muscle	Colon
11	chr9:117966200-117973600	Weak transcription	Fetal Stomach	stomach
12	chr9:117966400-117972800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr9:117967000-117972600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:117967800-117979400	Weak transcription	Aorta	Aorta
15	chr9:117968000-117972400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:117968200-117970600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr9:117968800-117972200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr9:117969000-117975400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr9:117969000-117976800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:117969200-117970800	Enhancers	Primary B cells from peripheral blood	blood
21	chr9:117969200-117971800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr9:117969200-117975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr9:117969400-117972200	Enhancers	HSMM	muscle
24	chr9:117969400-117974600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:117969400-117976000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr9:117969600-117971000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:117969600-117971800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:117969600-117973800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:117969600-117973800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:117969600-117973800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:117969600-117973800	Weak transcription	Placenta	Placenta
32	chr9:117969800-117971000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:117969800-117971000	Weak transcription	Fetal Lung	lung
34	chr9:117969800-117971600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr9:117969800-117971800	Weak transcription	NHLF	lung
36	chr9:117969800-117973800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr9:117969800-117973800	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:117970000-117970400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:117970000-117973800	Enhancers	GM12878-XiMat	blood

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