Variant report

Variant	rs12320036
Chromosome Location	chr12:29593932-29593933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10161532	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs10492378	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs11050164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11050165	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11050211	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs11050227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11050230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12298758	1.00[CHB][hapmap]
rs12304563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12305672	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs12305868	1.00[AMR][1000 genomes]
rs12308214	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12314430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314964	1.00[AMR][1000 genomes]
rs12315111	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12316548	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs12318046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12319953	0.82[AFR][1000 genomes]
rs12321184	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1369901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16934110	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.83[YRI][hapmap]
rs16934299	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs16934306	1.00[GIH][hapmap]
rs34730070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3816113	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs56331080	1.00[AMR][1000 genomes]
rs56753618	1.00[AMR][1000 genomes]
rs57061071	1.00[AMR][1000 genomes]
rs74081043	1.00[AMR][1000 genomes]
rs74081044	1.00[AMR][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	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	nsv973199	chr12:29584676-29595774	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29581600-29604200	Weak transcription	HSMMtube	muscle
2	chr12:29581800-29613600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:29584200-29641800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:29588000-29607600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29588000-29639800	Weak transcription	Aorta	Aorta
6	chr12:29589600-29598200	Weak transcription	HSMM	muscle
7	chr12:29593400-29594200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:29593800-29594200	ZNF genes & repeats	Left Ventricle	heart

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