Variant report

Variant	rs61589643
Chromosome Location	chr1:48121635-48121636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17103268	1.00[AMR][1000 genomes]
rs35993428	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56758748	1.00[AMR][1000 genomes]
rs58133026	1.00[AMR][1000 genomes]
rs60658472	1.00[AMR][1000 genomes]
rs6668966	0.87[AFR][1000 genomes];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	nsv829760	chr1:48111126-48308188	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv871257	chr1:48111699-48334490	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:48116400-48124000	Weak transcription	Brain Germinal Matrix	brain
2	chr1:48116800-48122200	Weak transcription	Fetal Lung	lung
3	chr1:48118600-48122000	Weak transcription	HUVEC	blood vessel
4	chr1:48121200-48122200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:48121200-48122400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:48121200-48123600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:48121400-48122000	Enhancers	Aorta	Aorta
8	chr1:48121400-48122000	Weak transcription	Right Atrium	heart
9	chr1:48121400-48122400	Enhancers	Brain Anterior Caudate	brain
10	chr1:48121400-48122400	Enhancers	Psoas Muscle	Psoas
11	chr1:48121400-48122600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr1:48121400-48122800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:48121400-48122800	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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