Variant report

Variant	rs12713314
Chromosome Location	chr2:56244743-56244744
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	chr2:55993449..55995609-chr2:56244406..56246687,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10171335	1.00[ASN][1000 genomes]
rs10194204	1.00[ASN][1000 genomes]
rs10194401	1.00[ASN][1000 genomes]
rs10200414	1.00[ASN][1000 genomes]
rs10206522	1.00[ASN][1000 genomes]
rs10206619	1.00[ASN][1000 genomes]
rs10210936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11686318	1.00[ASN][1000 genomes]
rs11693755	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886020	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12713312	1.00[ASN][1000 genomes]
rs12713313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12991457	1.00[ASN][1000 genomes]
rs13029542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs13398053	1.00[ASN][1000 genomes]
rs13399945	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13410155	1.00[ASN][1000 genomes]
rs13431392	1.00[ASN][1000 genomes]
rs13432828	1.00[ASN][1000 genomes]
rs1347093	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835897	1.00[ASN][1000 genomes]
rs2043258	0.91[AFR][1000 genomes]
rs2868992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34561537	1.00[ASN][1000 genomes]
rs4553860	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545539	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6724635	1.00[ASN][1000 genomes]
rs6724872	1.00[ASN][1000 genomes]
rs6741589	1.00[ASN][1000 genomes]
rs6745615	1.00[ASN][1000 genomes]
rs6756818	1.00[ASN][1000 genomes]
rs7557630	1.00[ASN][1000 genomes]
rs7587002	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597360	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601814	1.00[ASN][1000 genomes]
rs9967780	1.00[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	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
2	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
4	nsv520175	chr2:56228351-56331375	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56236600-56245000	Weak transcription	Brain Substantia Nigra	brain
2	chr2:56237600-56245400	Weak transcription	Brain Germinal Matrix	brain
3	chr2:56238600-56244800	Weak transcription	Hela-S3	cervix
4	chr2:56241800-56245400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:56243200-56245400	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:56243200-56245400	Weak transcription	Pancreas	Pancrea
7	chr2:56243200-56246400	Enhancers	HUVEC	blood vessel
8	chr2:56243400-56247000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:56243600-56245000	Weak transcription	Adipose Nuclei	Adipose
10	chr2:56243600-56247600	Weak transcription	A549	lung
11	chr2:56243600-56248200	Weak transcription	Fetal Kidney	kidney

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