Variant report

Variant	rs9347779
Chromosome Location	chr6:164123112-164123113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs750811	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295228	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9346969	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9346971	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9347778	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9365598	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9365600	0.82[CHD][hapmap]

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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9347779	ACAT2	cis	cerebellum	SCAN
rs9347779	RNASET2	cis	cerebellum	SCAN

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	chr6:164121800-164123600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr6:164121800-164135400	Enhancers	Primary B cells from cord blood	blood
4	chr6:164122000-164123800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr6:164122200-164123200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:164122200-164123600	Enhancers	Adipose Nuclei	Adipose
7	chr6:164122200-164124200	Enhancers	Primary T cells from cord blood	blood
8	chr6:164122400-164123400	Enhancers	GM12878-XiMat	blood
9	chr6:164122400-164128800	Weak transcription	K562	blood
10	chr6:164122600-164123400	Enhancers	Fetal Thymus	thymus
11	chr6:164122600-164123600	Enhancers	Fetal Heart	heart
12	chr6:164122600-164127800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr6:164122800-164123200	Weak transcription	Brain Hippocampus Middle	brain
14	chr6:164122800-164123200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:164122800-164124200	Weak transcription	Lung	lung
16	chr6:164122800-164127200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:164122800-164127200	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:164122800-164127800	Weak transcription	Left Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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