Variant report

Variant	rs7316047
Chromosome Location	chr12:40519173-40519174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	12:40517820-40521124..12:40703633-40711447	GM12878	blood:

Variant related genes	Relation type
ENSG00000188906	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11564134	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11564136	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs11564154	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs11564163	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11564186	1.00[CEU][hapmap]
rs11564188	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11564189	1.00[AMR][1000 genomes]
rs11564191	1.00[AMR][1000 genomes]
rs11564195	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11564208	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11564211	1.00[AMR][1000 genomes]
rs17519173	1.00[CEU][hapmap]
rs17519531	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs17519580	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2254475	1.00[CEU][hapmap]
rs28365208	1.00[CEU][hapmap]
rs28370698	1.00[CEU][hapmap]
rs73092794	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092800	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73093531	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73097442	1.00[AMR][1000 genomes]
rs73097447	1.00[AMR][1000 genomes]
rs73101828	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73102253	1.00[AMR][1000 genomes]
rs73102259	1.00[AMR][1000 genomes]
rs73102280	1.00[AMR][1000 genomes]
rs73102282	1.00[AMR][1000 genomes]
rs73102293	1.00[AMR][1000 genomes]
rs73102750	1.00[AMR][1000 genomes]
rs73102757	1.00[AMR][1000 genomes]
rs73102773	1.00[AMR][1000 genomes]
rs73105433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105445	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105478	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73105482	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73106314	1.00[AMR][1000 genomes]
rs73106320	1.00[AMR][1000 genomes]
rs73106342	1.00[AMR][1000 genomes]
rs73106345	1.00[AMR][1000 genomes]
rs73106346	1.00[AMR][1000 genomes]
rs73106349	1.00[AMR][1000 genomes]
rs73106357	1.00[AMR][1000 genomes]
rs73107664	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107677	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73108321	1.00[AMR][1000 genomes]
rs73108345	1.00[AMR][1000 genomes]
rs73108347	1.00[AMR][1000 genomes]
rs73108352	1.00[AMR][1000 genomes]
rs73108357	1.00[AMR][1000 genomes]
rs73108363	1.00[AMR][1000 genomes]
rs73108365	1.00[AMR][1000 genomes]
rs73108371	1.00[AMR][1000 genomes]
rs73108376	1.00[AMR][1000 genomes]
rs7315719	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7315853	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7966059	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974320	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][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	nsv558596	chr12:40413698-40591117	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv899028	chr12:40478652-40524180	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv899029	chr12:40478652-40536061	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv1836585	chr12:40492814-40540939	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1839483	chr12:40492814-40540939	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv1846566	chr12:40498683-40527395	Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv1838306	chr12:40499495-40527395	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv899030	chr12:40509341-40580440	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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