Variant report

Variant	rs2518227
Chromosome Location	chr6:101907568-101907569
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:12)

rs_ID	r²[population]
rs1465168	0.95[MEX][hapmap]
rs1465169	0.90[MEX][hapmap]
rs2245037	0.93[CEU][hapmap];0.91[CHB][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes]
rs2518157	0.90[MEX][hapmap]
rs2518158	0.82[EUR][1000 genomes]
rs2518230	0.93[CEU][hapmap];0.87[CHB][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs2518232	0.81[JPT][hapmap]
rs2579924	0.90[MEX][hapmap]
rs2579938	0.87[CHB][hapmap]
rs2787565	0.81[MEX][hapmap]
rs2788274	0.81[MEX][hapmap]
rs990386	0.85[CEU][hapmap];0.91[CHB][hapmap];0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv886459	chr6:101880376-101951502	Weak transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv886460	chr6:101890395-101951502	Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101902400-101907800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:101903400-101921000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:101906600-101909000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:101906800-101908200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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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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