Variant report

Variant	rs12713250
Chromosome Location	chr2:53666367-53666368
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1521937	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1521946	0.93[ASN][1000 genomes]
rs17189393	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35094278	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36106777	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6545346	0.89[ASN][1000 genomes]
rs6705735	0.85[JPT][hapmap]
rs6747724	0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3383918	chr2:53585059-53710179	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv984438	chr2:53649278-53685651	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53662600-53667600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:53662600-53669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:53663000-53669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:53663600-53668800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:53663600-53669000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:53664200-53669000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr2:53664800-53666600	Enhancers	Fetal Muscle Leg	muscle
8	chr2:53664800-53669400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:53665200-53666400	Enhancers	Fetal Heart	heart
10	chr2:53665600-53667400	Weak transcription	Pancreas	Pancrea
11	chr2:53665600-53672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:53665800-53668800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:53665800-53672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:53666000-53671400	Weak transcription	Hela-S3	cervix

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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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