Variant report

Variant	rs11689230
Chromosome Location	chr2:183305099-183305100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10497597	0.82[JPT][hapmap]
rs10931012	0.88[CEU][hapmap];0.80[TSI][hapmap];0.85[EUR][1000 genomes]
rs11684406	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs12468743	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs12693306	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12693307	0.91[EUR][1000 genomes]
rs12989198	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs1346773	0.93[EUR][1000 genomes]
rs1370669	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];0.91[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1560370	0.96[CEU][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1560371	0.96[CEU][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1560372	0.91[CEU][hapmap];0.80[LWK][hapmap];0.91[MKK][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs17343416	0.88[CEU][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs1897104	0.93[LWK][hapmap]
rs34889222	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4091077	0.85[ASW][hapmap];0.96[CEU][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6740889	0.96[CEU][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]

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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv2830429	chr2:183300759-183545378	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183298800-183320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:183301000-183308200	Weak transcription	Brain Hippocampus Middle	brain
3	chr2:183301200-183309200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:183301400-183309800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:183302800-183306400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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