Variant report

Variant	rs12318970
Chromosome Location	chr12:49555339-49555340
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:49550067..49551748-chr12:49554689..49556929,2	K562	blood:
2	chr12:49532190..49534352-chr12:49552912..49555753,2	K562	blood:
3	chr12:49522732..49526114-chr12:49555146..49558563,4	K562	blood:
4	chr12:49554137..49556960-chr12:49591128..49592792,2	K562	blood:
5	chr12:49554383..49558017-chr12:49560608..49563086,4	K562	blood:
6	chr12:49453466..49455877-chr12:49554274..49557266,2	K562	blood:
7	chr12:49523578..49526576-chr12:49555029..49558977,4	K562	blood:
8	chr12:49554159..49557154-chr12:49656720..49660645,6	K562	blood:
9	chr12:49454377..49456128-chr12:49555146..49557266,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000258017	Chromatin interaction
ENSG00000167548	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000167553	Chromatin interaction
ENSG00000123416	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10219709	1.00[AMR][1000 genomes]
rs11168898	1.00[AMR][1000 genomes]
rs11168899	1.00[AMR][1000 genomes]
rs11168905	1.00[AMR][1000 genomes]
rs11168913	1.00[AMR][1000 genomes]
rs11168916	1.00[AMR][1000 genomes]
rs11168918	1.00[AMR][1000 genomes]
rs11168923	1.00[AMR][1000 genomes]
rs12296189	1.00[AMR][1000 genomes]
rs12296265	1.00[AMR][1000 genomes]
rs12297125	0.83[AMR][1000 genomes]
rs12298869	1.00[AMR][1000 genomes]
rs12307514	0.83[AMR][1000 genomes]
rs12315823	1.00[AMR][1000 genomes]
rs12321120	1.00[AMR][1000 genomes]
rs12322965	1.00[AMR][1000 genomes]
rs61648563	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
2	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
4	esv3417605	chr12:49521878-49578961	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
5	nsv428801	chr12:49536659-49744884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49552600-49556400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:49552600-49556600	Weak transcription	Fetal Brain Female	brain
3	chr12:49553800-49555400	Enhancers	K562	blood
4	chr12:49554000-49555600	Flanking Active TSS	GM12878-XiMat	blood
5	chr12:49554000-49555800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr12:49554000-49557000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:49554200-49556000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr12:49554800-49555400	Enhancers	Spleen	Spleen
9	chr12:49554800-49555600	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:49554800-49555600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:49555000-49555800	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:49555000-49556000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:49555200-49555600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:49555200-49555800	Enhancers	Primary B cells from cord blood	blood

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Input of quick search could be:

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

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