Variant report

Variant	rs300348
Chromosome Location	chr2:142064297-142064298
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12465020	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12473777	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs12995803	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs13018371	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs16855038	0.85[CHB][hapmap]
rs300342	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[JPT][hapmap]
rs300346	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs300350	0.86[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs300400	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs300409	0.92[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583198	chr2:141510791-142150620	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1009434	chr2:141832339-142156180	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv2830111	chr2:142047759-142164422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3693337	chr2:142047759-142164422	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv875230	chr2:142055133-142119323	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
7	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142062200-142065200	Weak transcription	H1 Derived Mesenchymal Stem 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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