Variant report

Variant	rs7308865
Chromosome Location	chr12:25310724-25310725
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10505959	0.93[YRI][hapmap]
rs10505960	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10505980	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs10771174	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10771175	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10771176	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs10771177	0.89[ASN][1000 genomes]
rs10842466	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs10842473	0.86[ASN][1000 genomes]
rs10842475	0.86[ASN][1000 genomes]
rs10842476	0.84[AFR][1000 genomes]
rs10842483	0.82[AFR][1000 genomes]
rs10842492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs10842493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842495	0.90[AFR][1000 genomes]
rs10842496	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842498	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10842501	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs10842502	0.83[JPT][hapmap]
rs10842504	0.92[JPT][hapmap]
rs10842505	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs10842514	0.82[JPT][hapmap]
rs11047824	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs11047825	0.84[YRI][hapmap]
rs11047849	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11047854	0.85[ASN][1000 genomes]
rs11047855	0.86[ASN][1000 genomes]
rs11047856	0.86[ASN][1000 genomes]
rs11047858	0.93[YRI][hapmap];0.82[AFR][1000 genomes]
rs11047862	0.81[AFR][1000 genomes]
rs11047865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11047868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11047870	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11047885	1.00[YRI][hapmap]
rs11047887	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs11047888	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs11047894	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs11047901	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs11047902	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs11047915	0.82[JPT][hapmap]
rs11047919	0.82[JPT][hapmap]
rs1137188	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs11513449	0.86[ASN][1000 genomes]
rs11611468	0.81[CHB][hapmap];0.80[JPT][hapmap]
rs11832421	0.94[CHB][hapmap];0.82[JPT][hapmap]
rs12226937	0.84[CEU][hapmap]
rs12367971	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12368504	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12423443	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12424685	0.85[ASN][1000 genomes]
rs12579073	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12579942	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs12581134	0.82[ASN][1000 genomes]
rs12587	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12810577	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12813551	0.82[JPT][hapmap]
rs12814442	0.89[ASN][1000 genomes]
rs12815546	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs12818169	0.86[ASN][1000 genomes]
rs12822857	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs12828609	0.86[ASN][1000 genomes]
rs12830058	0.91[ASN][1000 genomes]
rs12830336	0.91[ASN][1000 genomes]
rs13096	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs17329025	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs1908946	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs2220196	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs2291365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs2352782	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2352784	0.85[ASN][1000 genomes]
rs2883030	0.84[AFR][1000 genomes]
rs34898174	0.80[ASN][1000 genomes]
rs3924650	0.92[YRI][hapmap]
rs4246229	0.84[CHB][hapmap];0.90[JPT][hapmap]
rs4559767	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4963850	0.85[ASN][1000 genomes]
rs4963859	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4963860	0.85[CHB][hapmap];0.92[JPT][hapmap]
rs61020746	0.85[ASN][1000 genomes]
rs6487464	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs712	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7135130	0.84[AFR][1000 genomes]
rs7297103	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7298636	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7299998	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7302922	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7303094	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7303373	0.82[YRI][hapmap]
rs7306769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7309124	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7956818	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs7960428	0.92[YRI][hapmap]
rs7973365	0.84[AFR][1000 genomes]
rs7973623	1.00[YRI][hapmap]
rs9266	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs9634100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25304600-25315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:25307200-25311600	Enhancers	Primary B cells from cord blood	blood
3	chr12:25307200-25312200	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:25309600-25310800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:25309800-25310800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr12:25310400-25310800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:25310400-25311600	Enhancers	GM12878-XiMat	blood

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