Variant report

Variant	rs12307644
Chromosome Location	chr12:44273062-44273063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:44232840..44235795-chr12:44270241..44273607,3	MCF-7	breast:
2	chr12:44151469..44154346-chr12:44272436..44274914,2	K562	blood:
3	chr12:44266572..44268712-chr12:44270596..44273370,2	K562	blood:

Variant related genes	Relation type
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10506233	1.00[CHB][hapmap]
rs11182312	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182317	0.81[AFR][1000 genomes]
rs11182363	1.00[CHB][hapmap]
rs11182371	1.00[CHB][hapmap]
rs11182376	1.00[CHB][hapmap]
rs11182389	1.00[CHB][hapmap]
rs11182410	1.00[CHB][hapmap]
rs12296939	1.00[CHB][hapmap]
rs12297529	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs12297544	1.00[CEU][hapmap]
rs12299112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299151	1.00[EUR][1000 genomes]
rs12303163	1.00[CHB][hapmap]
rs12307180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12310801	1.00[CHB][hapmap]
rs12315211	1.00[CEU][hapmap]
rs12319776	1.00[CHB][hapmap]
rs12320155	1.00[CHB][hapmap]
rs12320752	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321149	1.00[CHB][hapmap]
rs1388775	1.00[CHB][hapmap]
rs1406786	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1675759	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1731422	0.80[YRI][hapmap]
rs1731424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133336	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7307888	1.00[CEU][hapmap];0.90[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956766	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957146	1.00[CEU][hapmap]
rs7969724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9971859	1.00[CEU][hapmap]
rs9971895	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899048	chr12:44209423-44307888	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44240400-44293000	Weak transcription	Aorta	Aorta
2	chr12:44256400-44285600	Weak transcription	HSMMtube	muscle
3	chr12:44258200-44273600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44263400-44273200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44263600-44277000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:44263800-44277600	Weak transcription	Left Ventricle	heart
7	chr12:44273000-44275000	Enhancers	Colon Smooth Muscle	Colon

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