Variant report

Variant	rs9349279
Chromosome Location	chr6:44281900-44281901
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:44281820-44281970	NHEK	skin:	n/a	n/a
2	CTCF	chr6:44281760-44281910	GM12873	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:44279584..44282464-chr6:44309477..44312125,3	K562	blood:
2	chr6:43543539..43545353-chr6:44279457..44282197,2	K562	blood:
3	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:
4	chr6:44281673..44282583-chr6:102995671..102996294,2	MCF-7	breast:
5	chr6:44279512..44282294-chr6:44355146..44356851,3	MCF-7	breast:
6	chr6:44272619..44273140-chr6:44281766..44282700,2	K562	blood:
7	chr6:44279978..44282464-chr6:44309513..44313447,3	K562	blood:
8	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
9	chr6:44094789..44096473-chr6:44279267..44282226,2	K562	blood:
10	chr6:44105821..44107661-chr6:44279875..44282233,2	MCF-7	breast:
11	chr6:44281326..44282860-chr6:44296235..44298156,2	K562	blood:
12	chr6:44223815..44226053-chr6:44279566..44282424,2	MCF-7	breast:
13	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
AARS2	TF binding region
ENSG00000096401	Chromatin interaction
ENSG00000096384	Chromatin interaction
ENSG00000249481	Chromatin interaction
ENSG00000146232	Chromatin interaction
ENSG00000124571	Chromatin interaction
ENSG00000170734	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000157593	Chromatin interaction
ENSG00000137216	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10948130	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12176561	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12664825	0.81[CEU][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4714776	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864308	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72864312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864320	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9367191	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395001	1.00[MEX][hapmap]
rs9395002	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.81[TSI][hapmap];1.00[AMR][1000 genomes];1.00[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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv522456	chr6:44281716-44288847	Weak transcription Enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44280600-44282000	Active TSS	Stomach Smooth Muscle	stomach
2	chr6:44281200-44283200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr6:44281200-44283200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:44281400-44283200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr6:44281400-44283400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:44281600-44283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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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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