Variant report

Variant	rs26990
Chromosome Location	chr5:112786843-112786844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10037429	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10519348	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap]
rs10519354	1.00[CHB][hapmap]
rs11739509	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11740807	0.80[EUR][1000 genomes]
rs11744710	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs11744737	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11747062	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11750752	0.80[EUR][1000 genomes]
rs13161610	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13161969	1.00[JPT][hapmap]
rs13162970	1.00[JPT][hapmap]
rs13166822	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13172774	1.00[CHB][hapmap]
rs13177178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13182359	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1318772	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13187776	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs164252	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17135605	1.00[MEX][hapmap]
rs17325908	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17326496	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs17327139	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17332053	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap]
rs182988	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs255857	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes]
rs26965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs26980	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs26982	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs26984	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs26986	0.87[ASN][1000 genomes]
rs26989	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2860483	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2914151	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2914152	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348919	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348935	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs348939	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs35568473	0.87[AFR][1000 genomes]
rs36611	1.00[JPT][hapmap]
rs36613	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3763141	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs414475	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs446272	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.95[ASN][1000 genomes]
rs458055	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4705554	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4705829	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6861939	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs26990	DCP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112780400-112787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:112782200-112789600	Enhancers	Fetal Stomach	stomach
3	chr5:112784000-112787800	Weak transcription	Fetal Heart	heart
4	chr5:112786200-112810000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:112786400-112787000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:112786400-112787000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:112786400-112788000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:112786400-112788200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:112786600-112787000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr5:112786600-112790800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:112786800-112787000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:112786800-112787200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr5:112786800-112788000	Enhancers	NHEK	skin

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