Variant report

Variant	rs11050241
Chromosome Location	chr12:29615805-29615806
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10492377	0.88[LWK][hapmap]
rs10843421	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11613143	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12812922	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12823082	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12828155	1.00[ASW][hapmap];0.92[CEU][hapmap];0.85[GIH][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.89[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1369900	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1369904	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]
rs1436315	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1436316	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2196489	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs880133	0.82[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[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	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
3	nsv469190	chr12:29612425-29811471	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv557917	chr12:29612425-29811471	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
3	chr12:29598400-29657400	Weak transcription	HSMM	muscle
4	chr12:29600000-29639800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr12:29600600-29675600	Weak transcription	Psoas Muscle	Psoas
6	chr12:29604200-29655400	Weak transcription	Adipose Nuclei	Adipose
7	chr12:29608200-29622000	Weak transcription	Brain Anterior Caudate	brain
8	chr12:29608600-29624800	Weak transcription	Pancreas	Pancrea
9	chr12:29608800-29627200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:29609400-29631600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:29612800-29655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:29613600-29655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:29613600-29666800	Weak transcription	Spleen	Spleen
14	chr12:29614400-29622200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:29614600-29616000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:29614600-29658000	Weak transcription	HSMMtube	muscle
17	chr12:29615000-29624600	Weak transcription	Left Ventricle	heart

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

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