Variant report

Variant	rs12797274
Chromosome Location	chr11:34509643-34509644
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34508584..34510728-chr11:34514242..34516382,2	MCF-7	breast:
2	chr11:34508412..34512527-chr11:34512601..34514689,3	MCF-7	breast:
3	chr11:34504383..34506543-chr11:34507596..34509687,2	K562	blood:
4	chr11:34508032..34510036-chr11:34510118..34513690,3	K562	blood:

Variant related genes	Relation type
ENSG00000264667	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1001179	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10836234	1.00[CHD][hapmap]
rs11032654	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11032695	1.00[CHD][hapmap]
rs11032718	0.90[ASN][1000 genomes]
rs11032719	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11032722	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032723	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032724	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11032728	1.00[ASN][1000 genomes]
rs11604331	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12790145	1.00[ASN][1000 genomes]
rs12797675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12804506	0.88[CHD][hapmap]
rs12807961	1.00[CHD][hapmap]
rs12808450	1.00[CHD][hapmap]
rs1535719	0.90[ASN][1000 genomes]
rs17269931	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2231821	1.00[ASN][1000 genomes]
rs2231825	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs2231828	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs2476504	1.00[JPT][hapmap]
rs34234992	1.00[ASN][1000 genomes]
rs34366473	1.00[ASN][1000 genomes]
rs34901344	1.00[ASN][1000 genomes]
rs35495760	1.00[ASN][1000 genomes]
rs475043	0.90[ASN][1000 genomes]
rs494024	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[ASN][1000 genomes]
rs499406	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs508370	0.81[ASN][1000 genomes]
rs511895	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs524167	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs533425	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.90[ASN][1000 genomes]
rs55898107	1.00[ASN][1000 genomes]
rs560807	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs737254	1.00[CHD][hapmap];0.89[MEX][hapmap]

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	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832114	chr11:34424428-34607851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12797274	CAT	Cis_1M	lymphoblastoid	RTeQTL
rs12797274	CAT	cis	lymphoblastoid	seeQTL
rs12797274	CAT	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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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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