Variant report

Variant	rs12134593
Chromosome Location	chr1:217267315-217267316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12126987	1.00[AMR][1000 genomes]
rs12137803	1.00[AMR][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	nsv428610	chr1:217143317-217307243	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv549205	chr1:217165548-217270219	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217264000-217271800	Weak transcription	Pancreas	Pancrea
2	chr1:217264400-217269000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr1:217264400-217270800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:217265000-217267800	Weak transcription	Fetal Brain Male	brain
5	chr1:217265000-217269800	Weak transcription	Psoas Muscle	Psoas
6	chr1:217265200-217269000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:217265200-217269600	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:217265600-217269600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:217266200-217269800	Weak transcription	Right Ventricle	heart
10	chr1:217266200-217271200	Weak transcription	Fetal Heart	heart
11	chr1:217266200-217271400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:217266200-217271800	Weak transcription	Fetal Intestine Large	intestine

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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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