Variant report

Variant	rs60993427
Chromosome Location	chr14:72838299-72838300
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2239227	0.98[ASN][1000 genomes]
rs55916717	0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56326625	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57360450	0.85[ASN][1000 genomes]
rs7158564	1.00[ASN][1000 genomes]
rs72724044	0.83[ASN][1000 genomes]
rs72724054	0.90[ASN][1000 genomes]
rs72724074	0.85[ASN][1000 genomes]
rs72724081	0.91[ASN][1000 genomes]
rs72724092	0.98[ASN][1000 genomes]
rs72724098	0.98[ASN][1000 genomes]
rs8007684	0.86[ASN][1000 genomes]
rs8008045	0.86[ASN][1000 genomes]
rs8022845	0.90[ASN][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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72835000-72841800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72836000-72838800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72836000-72851400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:72837400-72838600	Weak transcription	Stomach Smooth Muscle	stomach

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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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