Variant report

Variant	rs1369904
Chromosome Location	chr12:29608449-29608450
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10843421	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050241	0.92[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11613143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12812922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12823082	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12828155	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1369900	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1436315	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1436316	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2196489	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs880133	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv898952	chr12:29565537-29617550	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
4	chr12:29594200-29614000	Weak transcription	Left Ventricle	heart
5	chr12:29598400-29657400	Weak transcription	HSMM	muscle
6	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
8	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
9	chr12:29605000-29613600	Weak transcription	HSMMtube	muscle
10	chr12:29607200-29609800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:29607600-29609200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:29607800-29608800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:29608000-29608600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:29608000-29608600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:29608000-29609000	Weak transcription	Brain Angular Gyrus	brain
16	chr12:29608000-29609000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:29608200-29622000	Weak transcription	Brain Anterior Caudate	brain
18	chr12:29608400-29608600	Active TSS	Brain Hippocampus Middle	brain
19	chr12:29608400-29608600	Active TSS	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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