Variant report

Variant	rs7929543
Chromosome Location	chr11:49351026-49351027
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10839272	0.87[ASN][1000 genomes]
rs10839274	0.84[ASN][1000 genomes]
rs11040313	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11040315	0.86[ASN][1000 genomes]
rs11040318	0.81[ASN][1000 genomes]
rs11040352	0.91[ASN][1000 genomes]
rs11040353	0.87[ASN][1000 genomes]
rs11040354	0.89[ASN][1000 genomes]
rs11040355	0.82[ASN][1000 genomes]
rs11040357	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap]
rs11040369	0.85[ASN][1000 genomes]
rs11040370	1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12226534	0.85[ASN][1000 genomes]
rs1843628	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2018812	0.83[ASN][1000 genomes]
rs2204369	0.91[ASN][1000 genomes]
rs2866366	0.91[ASN][1000 genomes]
rs3974686	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59878624	0.87[AFR][1000 genomes]
rs7113075	1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.82[ASN][1000 genomes]
rs7120873	0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs7932396	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7939300	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7939316	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7944296	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469956	chr11:48922645-49862647	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv554347	chr11:49111467-49862647	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1044070	chr11:49147743-49448774	Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv525454	chr11:49156039-49570587	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv518571	chr11:49162948-49627833	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2758269	chr11:49212237-49468966	Bivalent/Poised TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv2759825	chr11:49212237-49468966	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2757442	chr11:49281916-49398973	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv2756709	chr11:49304358-49398973	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	esv3514472	chr11:49306026-49363024	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	esv3514471	chr11:49306608-49361878	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
12	esv3514473	chr11:49306608-49361878	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
13	nsv442230	chr11:49307804-49360691	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
14	esv3693082	chr11:49310952-49358347	Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
15	nsv467875	chr11:49310952-49438332	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv554354	chr11:49310952-49438332	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv2762911	chr11:49313235-49388513	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
18	nsv818817	chr11:49326534-49358347	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
19	esv3520181	chr11:49334076-49363274	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
20	esv3520182	chr11:49334076-49363274	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:49349400-49351600	Enhancers	Fetal Heart	heart

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