Variant report

Variant	rs2595917
Chromosome Location	chr3:100739808-100739809
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100738176..100740012-chr3:100741389..100744208,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10936459	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10936460	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10936464	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap]
rs13062274	0.86[ASN][1000 genomes]
rs13066740	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13072542	0.86[ASN][1000 genomes]
rs13075849	0.99[ASN][1000 genomes]
rs13079773	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13080505	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13082728	0.86[ASN][1000 genomes]
rs13090397	0.86[ASN][1000 genomes]
rs13091963	0.99[ASN][1000 genomes]
rs1349198	0.83[CHB][hapmap]
rs1449300	0.86[ASN][1000 genomes]
rs1449302	0.86[ASN][1000 genomes]
rs1449305	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1449306	0.84[CHB][hapmap]
rs1449308	0.85[CHB][hapmap]
rs1449315	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449320	0.86[ASN][1000 genomes]
rs16843113	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16843116	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16843148	0.86[ASN][1000 genomes]
rs16843163	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1965214	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2254374	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595914	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713751	0.84[AMR][1000 genomes]
rs2713757	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2713768	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2713769	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2713771	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713773	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2713774	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713775	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2713776	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28365990	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2873448	0.86[ASN][1000 genomes]
rs34350012	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34587221	0.88[ASN][1000 genomes]
rs34670326	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34748077	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35064087	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35290466	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3732895	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs3732896	0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.99[ASN][1000 genomes]
rs3806655	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41273569	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928060	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4928102	0.86[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.80[MKK][hapmap]
rs4928104	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56847573	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs58004340	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7631509	0.86[ASN][1000 genomes]
rs9853097	0.84[CHB][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv877222	chr3:100715576-101038297	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2595917	C3orf26	cis	parietal	SCAN
rs2595917	CEP97	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100730000-100745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:100736200-100744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:100737800-100740200	Enhancers	NHDF-Ad	bronchial
4	chr3:100738600-100740200	Enhancers	Osteobl	bone
5	chr3:100738800-100740400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:100739000-100740000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:100739800-100740000	Enhancers	Fetal Lung	lung

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