Variant report

Variant	rs7724203
Chromosome Location	chr5:61119308-61119309
allele	C/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:4)

rs_ID	r²[population]
rs11742850	0.80[CEU][hapmap]
rs11746125	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16895538	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73105901	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020693	chr5:61098865-61357032	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7724203	ADAMTS6	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61114000-61119600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:61117400-61119400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:61117600-61119400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:61118400-61119800	Enhancers	HSMM	muscle
5	chr5:61118600-61120000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:61118600-61120000	Enhancers	Fetal Muscle Leg	muscle
7	chr5:61119000-61119400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:61119000-61119800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:61119000-61129400	Weak transcription	Fetal Brain Male	brain
10	chr5:61119200-61119600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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