Variant report

Variant	rs12447719
Chromosome Location	chr16:47076228-47076229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:47071997..47073824-chr16:47075723..47077434,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10459877	0.97[EUR][1000 genomes]
rs11247542	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11247543	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11649695	0.83[ASN][1000 genomes]
rs11859515	0.94[EUR][1000 genomes]
rs12445492	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12596824	0.97[EUR][1000 genomes]
rs12719759	0.83[EUR][1000 genomes]
rs12925296	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1362406	0.94[EUR][1000 genomes]
rs1376734	0.97[EUR][1000 genomes]
rs1551188	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1894886	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1978336	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2058673	0.97[EUR][1000 genomes]
rs2341648	0.94[EUR][1000 genomes]
rs35405784	0.94[EUR][1000 genomes]
rs4577108	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4625742	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966781	0.97[EUR][1000 genomes]
rs4966794	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4966795	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4966800	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4967664	0.94[EUR][1000 genomes]
rs4967696	0.97[EUR][1000 genomes]
rs4967724	0.81[EUR][1000 genomes]
rs4967727	0.81[AMR][1000 genomes]
rs4967739	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62059134	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7189628	0.94[EUR][1000 genomes]
rs7199379	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199772	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7202325	0.97[EUR][1000 genomes]
rs7203206	0.97[EUR][1000 genomes]
rs8044720	0.87[AFR][1000 genomes]
rs8046142	0.94[EUR][1000 genomes]
rs8047353	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8052160	0.92[EUR][1000 genomes]
rs8054039	0.90[EUR][1000 genomes]
rs8058144	0.90[EUR][1000 genomes]
rs8058714	0.85[EUR][1000 genomes]
rs8060193	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9328700	0.83[ASN][1000 genomes]
rs933511	0.83[ASN][1000 genomes]
rs9745921	0.97[EUR][1000 genomes]
rs9923192	0.81[EUR][1000 genomes]
rs9925290	0.97[EUR][1000 genomes]
rs9925525	0.87[EUR][1000 genomes]
rs9927843	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1056328	chr16:47011193-47172862	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47072400-47076600	Weak transcription	GM12878-XiMat	blood
2	chr16:47072400-47078600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:47072400-47078800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:47072400-47079000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr16:47072400-47079800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr16:47072400-47080800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:47072400-47081800	Weak transcription	Spleen	Spleen
8	chr16:47072400-47096800	Weak transcription	Right Atrium	heart
9	chr16:47072600-47079400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr16:47074400-47077000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr16:47075400-47078800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr16:47076000-47076800	Enhancers	K562	blood
13	chr16:47076000-47077200	Enhancers	Primary B cells from peripheral blood	blood

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