Variant report

Variant	rs2508370
Chromosome Location	chr11:101268887-101268888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11224729	0.83[ASW][hapmap]
rs11822280	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11824770	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17096639	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17096649	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2508355	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508356	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2508361	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2508363	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2508364	0.93[EUR][1000 genomes]
rs2508373	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2508375	0.93[AFR][1000 genomes]
rs2508376	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2513143	0.91[EUR][1000 genomes]
rs2513144	0.94[EUR][1000 genomes]
rs2513145	0.94[EUR][1000 genomes]
rs2513147	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2513148	0.91[EUR][1000 genomes]
rs2513171	0.93[EUR][1000 genomes]
rs2513173	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3016234	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3016235	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3018700	0.83[AFR][1000 genomes]
rs4754759	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs4754760	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55837513	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55997858	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56229466	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56334567	0.87[EUR][1000 genomes]
rs56380147	0.84[EUR][1000 genomes]
rs6590851	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6590852	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6590857	0.88[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6590858	0.88[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7114691	0.93[EUR][1000 genomes]
rs7115209	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7120480	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7125623	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72980031	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72980041	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72980076	0.89[EUR][1000 genomes]
rs72982215	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72982217	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72982219	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72982223	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72982226	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72982232	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72982238	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72982262	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7928020	0.88[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7933788	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7935424	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7938675	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7938729	0.88[CEU][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7940538	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7949411	0.84[AMR][1000 genomes];0.88[EUR][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	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	esv2753322	chr11:101052790-101311790	Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv832247	chr11:101123483-101298787	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv468851	chr11:101268447-101330807	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv556132	chr11:101268447-101330807	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2508370	MMP27	cis	parietal	SCAN
rs2508370	TMEM133	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101253600-101278200	Weak transcription	Ovary	ovary
2	chr11:101257800-101271000	Weak transcription	Left Ventricle	heart
3	chr11:101268400-101269000	Enhancers	NHLF	lung
4	chr11:101268400-101269400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:101268400-101270000	Enhancers	NHDF-Ad	bronchial
6	chr11:101268400-101272200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:101268600-101269000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:101268600-101269600	Enhancers	Adipose Nuclei	Adipose
9	chr11:101268600-101269800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:101268600-101269800	Enhancers	Aorta	Aorta

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