Variant report

Variant	rs17054028
Chromosome Location	chr6:127040314-127040315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10484757	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10484758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17053991	0.85[AFR][1000 genomes]
rs17054005	0.94[YRI][hapmap]
rs17054008	0.93[YRI][hapmap]
rs17054016	0.87[AFR][1000 genomes]
rs17054019	0.90[AFR][1000 genomes]
rs17054020	0.87[AFR][1000 genomes]
rs17054021	0.93[AFR][1000 genomes]
rs17054030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054039	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054043	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17054061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3905235	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56792982	0.85[AFR][1000 genomes]
rs57071644	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57234085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57315731	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59027637	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60275345	1.00[AMR][1000 genomes]
rs60819643	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60977956	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60985912	0.88[AFR][1000 genomes]
rs61244755	0.88[AFR][1000 genomes]
rs6924328	0.93[AFR][1000 genomes]
rs73771500	0.81[AFR][1000 genomes]
rs73773114	0.81[AFR][1000 genomes]
rs7744477	0.88[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	nsv1026498	chr6:126812609-127397240	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1024206	chr6:126873187-127475713	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538438	chr6:126873187-127475713	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv830797	chr6:126923875-127100956	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127036000-127041600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:127037400-127041200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr6:127037600-127041600	Weak transcription	Osteobl	bone
4	chr6:127037600-127042000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr6:127037800-127041600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:127038200-127041200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:127038200-127041600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:127038400-127041200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:127038600-127041200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:127038600-127041200	Weak transcription	NHDF-Ad	bronchial
11	chr6:127038600-127041200	Weak transcription	NHLF	lung
12	chr6:127038600-127041600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:127038600-127042400	Weak transcription	HSMM	muscle
14	chr6:127038600-127042800	Weak transcription	HSMMtube	muscle
15	chr6:127039200-127042400	Weak transcription	Hela-S3	cervix
16	chr6:127039800-127040600	Flanking Active TSS	GM12878-XiMat	blood
17	chr6:127040000-127041800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr6:127040000-127042000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:127040200-127040400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:127040200-127040400	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr6:127040200-127042400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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