Variant report

Variant	rs55861673
Chromosome Location	chr8:118746913-118746914
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs17430434	1.00[AFR][1000 genomes]
rs55661381	1.00[AMR][1000 genomes];0.92[EUR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831438	chr8:118679896-118823600	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55861673	EXT1	cis	brain	BrainEAC

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118744200-118751000	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr8:118744200-118753400	Weak transcription	HSMM	muscle
3	chr8:118744200-118769200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:118744400-118747200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:118744400-118750600	Weak transcription	Aorta	Aorta
6	chr8:118744400-118750800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:118744400-118751000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr8:118744400-118751000	Weak transcription	NH-A	brain
9	chr8:118744400-118751000	Weak transcription	NHLF	lung
10	chr8:118744800-118748000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr8:118744800-118749400	Weak transcription	Osteobl	bone
12	chr8:118746200-118749400	Weak transcription	Ovary	ovary
13	chr8:118746200-118751000	Weak transcription	NHDF-Ad	bronchial
14	chr8:118746400-118751000	Weak transcription	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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