Variant report

Variant	rs2039379
Chromosome Location	chr9:21534777-21534778
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10120766	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10124767	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10491566	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10965048	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1332181	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1591035	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2025327	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2025328	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2039378	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2146797	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2183904	0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2210437	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6475538	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs720975	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs725074	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7863623	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7868724	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
2	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
3	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
4	nsv892741	chr9:21517302-21551513	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:21508000-21542000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:21516800-21542600	Weak transcription	Stomach Mucosa	stomach
4	chr9:21526400-21534800	Strong transcription	NHEK	skin
5	chr9:21526800-21534800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr9:21527800-21536600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:21528800-21535800	Weak transcription	Gastric	stomach
8	chr9:21528800-21542000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:21529000-21534800	Weak transcription	Esophagus	oesophagus
10	chr9:21529000-21551400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:21530800-21535000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:21531600-21542600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:21532200-21542800	Weak transcription	NHLF	lung
14	chr9:21532400-21542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:21533000-21535000	Weak transcription	Hela-S3	cervix
16	chr9:21533000-21535000	Strong transcription	Osteobl	bone
17	chr9:21533200-21534800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:21533200-21535000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr9:21533200-21535000	Weak transcription	NH-A	brain
20	chr9:21533200-21542600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:21533800-21535200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:21533800-21536000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:21534000-21535000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:21534000-21535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:21534000-21535200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr9:21534000-21535200	Strong transcription	HMEC	breast
27	chr9:21534000-21535800	Strong transcription	A549	lung
28	chr9:21534000-21542000	Weak transcription	HUVEC	blood vessel
29	chr9:21534000-21543000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:21534000-21544200	Weak transcription	NHDF-Ad	bronchial
31	chr9:21534400-21548200	Weak transcription	HSMM	muscle
32	chr9:21534600-21535200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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