Variant report

Variant	rs10229345
Chromosome Location	chr7:65982168-65982169
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10215132	0.88[EUR][1000 genomes]
rs10249404	0.89[EUR][1000 genomes]
rs10255377	0.84[EUR][1000 genomes]
rs10263935	0.84[EUR][1000 genomes]
rs10272357	0.89[EUR][1000 genomes]
rs10272546	0.82[EUR][1000 genomes]
rs10278371	0.89[EUR][1000 genomes]
rs10278816	0.89[EUR][1000 genomes]
rs10281080	0.89[EUR][1000 genomes]
rs10950044	0.89[EUR][1000 genomes]
rs11765356	0.89[EUR][1000 genomes]
rs11766262	0.85[ASN][1000 genomes]
rs11771318	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11772636	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12533585	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12698534	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13224319	0.90[EUR][1000 genomes]
rs1643374	0.87[EUR][1000 genomes]
rs1860468	0.81[EUR][1000 genomes]
rs1860470	0.83[EUR][1000 genomes]
rs1968127	0.89[EUR][1000 genomes]
rs2013222	0.89[EUR][1000 genomes]
rs2191268	0.81[EUR][1000 genomes]
rs2302918	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2420824	0.80[EUR][1000 genomes]
rs2659909	0.80[EUR][1000 genomes]
rs28698552	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34883818	0.83[ASN][1000 genomes]
rs35526611	0.83[EUR][1000 genomes]
rs35986979	0.84[EUR][1000 genomes]
rs3764903	0.83[EUR][1000 genomes]
rs3857686	0.89[EUR][1000 genomes]
rs3898855	0.89[EUR][1000 genomes]
rs4718361	0.96[EUR][1000 genomes]
rs4718363	0.82[EUR][1000 genomes]
rs62465434	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62467857	0.84[EUR][1000 genomes]
rs6460305	0.89[EUR][1000 genomes]
rs6460308	0.82[EUR][1000 genomes]
rs6943696	0.89[EUR][1000 genomes]
rs6952407	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6960778	0.87[EUR][1000 genomes]
rs6965056	0.89[EUR][1000 genomes]
rs6974355	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes]
rs71563125	0.89[EUR][1000 genomes]
rs7357230	0.86[EUR][1000 genomes]
rs7793569	0.81[EUR][1000 genomes]
rs7807930	0.84[EUR][1000 genomes]
rs7807944	0.84[EUR][1000 genomes]
rs801190	0.89[EUR][1000 genomes]
rs801193	0.89[EUR][1000 genomes]
rs801196	0.90[EUR][1000 genomes]
rs801201	0.89[EUR][1000 genomes]
rs801205	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs801211	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs801216	0.94[EUR][1000 genomes]
rs801217	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs810400	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9791890	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv970515	chr7:65975431-65983898	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs10229345	RP4-756H11.3	cis	Artery Aorta	GTEx
rs10229345	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs10229345	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs10229345	RP4-756H11.3	cis	lung	GTEx
rs10229345	RP4-756H11.3	cis	Stomach	GTEx
rs10229345	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs10229345	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs10229345	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs10229345	RP4-756H11.3	cis	Whole Blood	GTEx
rs10229345	RP4-756H11.3	cis	Artery Tibial	GTEx
rs10229345	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs10229345	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs10229345	RP4-756H11.3	cis	Thyroid	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65973800-65982600	Weak transcription	HepG2	liver
2	chr7:65975200-65989600	Weak transcription	Fetal Intestine Small	intestine
3	chr7:65980600-65989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:65981400-66001000	Weak transcription	Fetal Brain Female	brain

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