Variant report

Variant	rs6726055
Chromosome Location	chr2:133714142-133714143
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1005941	0.83[AFR][1000 genomes]
rs10195459	1.00[CEU][hapmap];0.80[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10198336	0.86[ASN][1000 genomes]
rs1020430	0.81[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10207480	0.84[CEU][hapmap];0.89[GIH][hapmap];0.80[JPT][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.89[EUR][1000 genomes]
rs11893302	0.84[JPT][hapmap]
rs12469430	0.84[JPT][hapmap]
rs12999715	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs13012637	0.94[CEU][hapmap];0.96[GIH][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs13016800	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs13018802	0.82[EUR][1000 genomes]
rs1584314	0.84[JPT][hapmap]
rs16843794	0.83[JPT][hapmap]
rs16843849	0.93[JPT][hapmap];1.00[YRI][hapmap]
rs16843961	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1989735	0.87[MEX][hapmap]
rs281574	0.81[GIH][hapmap]
rs281581	0.84[GIH][hapmap]
rs281583	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs36003100	0.83[AFR][1000 genomes]
rs4953862	0.84[JPT][hapmap]
rs4953864	0.89[JPT][hapmap];0.87[YRI][hapmap]
rs4954007	0.83[JPT][hapmap]
rs4954008	0.83[JPT][hapmap]
rs4954009	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4954010	0.87[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs4954011	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6716135	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6748489	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6752737	0.94[CEU][hapmap];0.92[GIH][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes]
rs6752866	0.94[CEU][hapmap];0.93[CHB][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875137	chr2:133167263-133714142	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv583158	chr2:133316092-133862100	Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv875138	chr2:133410921-133761794	Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1002955	chr2:133440142-133743211	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1004604	chr2:133658116-133761794	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv916805	chr2:133664765-133924973	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133699200-133720600	Weak transcription	Fetal Lung	lung
2	chr2:133701600-133727000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:133702200-133724400	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:133705600-133720600	Weak transcription	Fetal Stomach	stomach
5	chr2:133709600-133721600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:133709800-133720600	Weak transcription	Fetal Kidney	kidney
7	chr2:133709800-133721600	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:133710400-133719800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:133711600-133716800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:133713200-133714200	Weak transcription	Pancreas	Pancrea
11	chr2:133713600-133722400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:133714000-133714600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:133714000-133714600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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