Variant report

Variant	rs67402578
Chromosome Location	chr1:217226553-217226554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1361309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6680670	0.92[EUR][1000 genomes]
rs6682402	0.92[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	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217213400-217240600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr1:217215400-217226600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:217217000-217226600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:217218000-217227000	Weak transcription	Fetal Heart	heart
5	chr1:217221800-217251400	Weak transcription	Left Ventricle	heart
6	chr1:217223200-217250000	Weak transcription	Psoas Muscle	Psoas
7	chr1:217226000-217226600	Enhancers	Fetal Intestine Small	intestine
8	chr1:217226000-217227400	Enhancers	Fetal Muscle Leg	muscle
9	chr1:217226200-217226800	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:217226200-217227200	Enhancers	Fetal Intestine Large	intestine
11	chr1:217226400-217235000	Weak transcription	Fetal Kidney	kidney

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

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