Variant report

Variant	rs7315499
Chromosome Location	chr12:105964945-105964946
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11112550	1.00[EUR][1000 genomes]
rs12317775	1.00[EUR][1000 genomes]
rs17037459	1.00[EUR][1000 genomes]
rs28452693	1.00[EUR][1000 genomes]
rs60274159	1.00[EUR][1000 genomes]
rs61048416	1.00[EUR][1000 genomes]
rs7298586	1.00[EUR][1000 genomes]
rs73383296	1.00[EUR][1000 genomes]
rs73383298	1.00[EUR][1000 genomes]
rs73383302	1.00[EUR][1000 genomes]
rs73385004	1.00[EUR][1000 genomes]
rs73385015	1.00[EUR][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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105956400-105967400	Weak transcription	Left Ventricle	heart
2	chr12:105956600-105979000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105957400-105967800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:105958000-105965000	Strong transcription	HUVEC	blood vessel
5	chr12:105964000-105965400	Enhancers	HSMMtube	muscle
6	chr12:105964000-105965600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105964000-105967200	Weak transcription	Fetal Heart	heart
8	chr12:105964600-105965000	ZNF genes & repeats	Aorta	Aorta
9	chr12:105964600-105965000	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:105964600-105965800	Weak transcription	Fetal Lung	lung
11	chr12:105964800-105965000	Enhancers	Fetal Muscle Leg	muscle

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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