Variant report

Variant	rs59039271
Chromosome Location	chr6:164123806-164123807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:164122881-164125999	GM12891	blood:	n/a	n/a
2	POU2F2	chr6:164123716-164124104	GM12891	blood:	n/a	chr6:164123873-164123885 chr6:164123928-164123935
3	POLR2A	chr6:164123776-164124128	GM12891	blood:	n/a	n/a
4	RUNX3	chr6:164123710-164124097	GM12878	blood:	n/a	n/a
5	YY1	chr6:164123616-164123959	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000235538	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56984848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57235208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57308664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57456277	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57524107	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57770616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214854	0.91[AFR][1000 genomes]
rs60755658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73236470	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241724	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241742	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241743	1.00[AFR][1000 genomes]
rs73241745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241750	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241755	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73241765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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 target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1019107	chr6:164056423-164144164	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025171	chr6:164113981-164170027	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164121200-164135200	Enhancers	Primary B cells from peripheral blood	blood
2	chr6:164121800-164135400	Enhancers	Primary B cells from cord blood	blood
3	chr6:164122200-164124200	Enhancers	Primary T cells from cord blood	blood
4	chr6:164122400-164128800	Weak transcription	K562	blood
5	chr6:164122600-164127800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr6:164122800-164124200	Weak transcription	Lung	lung
7	chr6:164122800-164127200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:164122800-164127200	Weak transcription	Fetal Muscle Leg	muscle
9	chr6:164122800-164127800	Weak transcription	Left Ventricle	heart
10	chr6:164123200-164127000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:164123400-164124200	Flanking Active TSS	GM12878-XiMat	blood
12	chr6:164123400-164126600	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:164123400-164127200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:164123400-164130600	Weak transcription	Fetal Thymus	thymus
15	chr6:164123600-164127800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr6:164123600-164128000	Weak transcription	Fetal Heart	heart
17	chr6:164123600-164128400	Weak transcription	Adipose Nuclei	Adipose
18	chr6:164123800-164125400	Weak transcription	Primary monocytes fromperipheralblood	blood

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