Variant report

Variant	rs11052678
Chromosome Location	chr12:9871845-9871846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11052233	1.00[AMR][1000 genomes]
rs11052266	1.00[AMR][1000 genomes]
rs11834388	1.00[AMR][1000 genomes]
rs12297721	1.00[AMR][1000 genomes]
rs12303281	1.00[AMR][1000 genomes]
rs12303925	1.00[AMR][1000 genomes]
rs12311889	1.00[AMR][1000 genomes]
rs12317575	1.00[AMR][1000 genomes]
rs12317691	1.00[AMR][1000 genomes]
rs74062738	1.00[AMR][1000 genomes]
rs74062744	1.00[AMR][1000 genomes]
rs74062748	1.00[AMR][1000 genomes]
rs9630263	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758293	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
2	esv2759878	chr12:9371595-9923529	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv983235	chr12:9852218-9893776	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2757490	chr12:9855958-9888553	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv442255	chr12:9862078-9874924	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3693109	chr12:9863968-9876091	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv8910	chr12:9865993-9872509	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv976571	chr12:9868953-9873977	Enhancers Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3406286	chr12:9871143-9872940	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 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	chr12:9858000-9872200	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:9861000-9873200	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr12:9861000-9874200	Weak transcription	Fetal Thymus	thymus
4	chr12:9861600-9882400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:9861800-9874000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:9864000-9873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:9864600-9883800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:9868400-9872600	Weak transcription	HUVEC	blood vessel
9	chr12:9868600-9879200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:9869200-9874200	Weak transcription	K562	blood
11	chr12:9871000-9874000	Enhancers	Primary B cells from cord blood	blood
12	chr12:9871400-9872000	Enhancers	HepG2	liver
13	chr12:9871400-9873600	Enhancers	A549	lung
14	chr12:9871800-9872200	Enhancers	GM12878-XiMat	blood

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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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