Variant report

Variant	rs12992827
Chromosome Location	chr2:55728342-55728343
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55728050..55729964-chr2:55747020..55749706,2	MCF-7	breast:
2	chr2:55727452..55730813-chr2:55743534..55747364,4	K562	blood:

Variant related genes	Relation type
ENSG00000163001	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1013138	0.82[CHB][hapmap]
rs12617627	0.94[CHB][hapmap]
rs12618859	0.85[JPT][hapmap]
rs12986587	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12992408	0.94[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs12993642	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12998664	0.85[JPT][hapmap]
rs13001425	0.82[CHB][hapmap]
rs13005678	0.82[ASN][1000 genomes]
rs13009447	0.87[CHB][hapmap]
rs13009906	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs13014898	0.83[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs13015018	0.94[CHB][hapmap]
rs13015030	0.88[CHB][hapmap]
rs13022396	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13030056	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs13032503	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs1318672	0.88[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs17737233	0.85[JPT][hapmap]
rs1822513	0.88[CHB][hapmap]
rs2291336	0.85[JPT][hapmap]
rs34013926	0.81[ASN][1000 genomes]
rs34143512	0.81[ASN][1000 genomes]
rs35189503	0.96[ASN][1000 genomes]
rs3828238	0.85[JPT][hapmap]
rs5012561	0.82[ASN][1000 genomes]
rs55923279	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6737995	0.85[JPT][hapmap]
rs6753530	0.80[JPT][hapmap]
rs6757006	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs7575170	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs8080	0.88[CHB][hapmap];0.86[JPT][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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv874160	chr2:55713102-55828974	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv521318	chr2:55716650-55736704	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv525434	chr2:55716650-55841640	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55728200-55730400	Weak transcription	K562	blood

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