Variant report

Variant	rs12699238
Chromosome Location	chr7:11610592-11610593
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10240343	0.81[ASN][1000 genomes]
rs10240511	0.81[ASN][1000 genomes]
rs1034739	0.82[CHB][hapmap];0.97[CHD][hapmap]
rs10428944	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs10486154	0.88[CEU][hapmap];0.83[GIH][hapmap];0.94[MEX][hapmap];0.90[TSI][hapmap]
rs12699235	0.87[ASN][1000 genomes]
rs12699240	1.00[ASW][hapmap];0.84[CEU][hapmap];0.80[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.81[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12699241	0.84[CEU][hapmap];0.80[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.87[AMR][1000 genomes]
rs12699242	0.80[CHD][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.84[AMR][1000 genomes]
rs12699246	0.80[CHD][hapmap]
rs13240026	0.83[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[ASN][1000 genomes]
rs17164805	0.94[CHB][hapmap];0.93[CHD][hapmap];0.90[ASN][1000 genomes]
rs2040816	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2040817	1.00[JPT][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs34059711	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35025590	0.96[ASN][1000 genomes]
rs35833899	0.80[ASN][1000 genomes]
rs4291151	0.82[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs4443556	0.81[ASN][1000 genomes]
rs4443557	0.81[ASN][1000 genomes]
rs4504531	0.81[ASN][1000 genomes]
rs4571634	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs67661140	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6942629	0.84[CHD][hapmap]
rs6968824	0.81[ASN][1000 genomes]
rs6975510	0.82[CHB][hapmap]
rs7777369	0.89[MEX][hapmap]
rs7788442	0.89[YRI][hapmap]
rs7790988	0.94[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs7792687	0.80[CHB][hapmap]
rs7805116	0.82[CHB][hapmap];0.97[CHD][hapmap];0.85[ASN][1000 genomes]
rs7811211	0.82[CHB][hapmap];0.84[CHD][hapmap];0.81[ASN][1000 genomes]
rs916988	0.86[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028326	chr7:11221209-11754436	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv538733	chr7:11221209-11754436	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1023665	chr7:11457493-11773517	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv887606	chr7:11473561-11771288	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11577400-11615200	Weak transcription	Placenta	Placenta
2	chr7:11609200-11613400	Enhancers	Liver	Liver
3	chr7:11609800-11610600	Enhancers	A549	lung

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