Variant report

Variant	rs4554233
Chromosome Location	chr5:42619316-42619317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10440649	1.00[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10941578	0.90[JPT][hapmap]
rs10941582	1.00[EUR][1000 genomes]
rs11948120	0.82[EUR][1000 genomes]
rs11948453	0.94[CEU][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11949751	1.00[JPT][hapmap]
rs11957404	0.93[CEU][hapmap];0.92[EUR][1000 genomes]
rs12520276	1.00[JPT][hapmap]
rs12521020	1.00[JPT][hapmap]
rs13163126	0.89[EUR][1000 genomes]
rs13173465	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13175765	0.89[EUR][1000 genomes]
rs13354167	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs28943882	1.00[CEU][hapmap];0.97[TSI][hapmap];0.96[EUR][1000 genomes]
rs35893798	0.97[EUR][1000 genomes]
rs4075783	1.00[JPT][hapmap]
rs4242115	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4305645	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4314405	0.90[JPT][hapmap]
rs4484445	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4489074	1.00[JPT][hapmap]
rs4493680	0.90[JPT][hapmap]
rs4504390	1.00[JPT][hapmap]
rs4866791	0.94[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4866936	0.90[JPT][hapmap]
rs6451626	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs68070657	0.83[EUR][1000 genomes]
rs6859653	0.90[JPT][hapmap]
rs6887718	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs6896667	1.00[JPT][hapmap]
rs7702524	0.94[CEU][hapmap];0.90[EUR][1000 genomes]
rs7703713	0.90[JPT][hapmap]
rs7709370	0.97[EUR][1000 genomes]
rs7709790	1.00[CEU][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs7721816	0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7735889	1.00[JPT][hapmap]
rs9292854	0.88[CEU][hapmap];0.97[EUR][1000 genomes]
rs9968669	0.91[ASN][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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1027023	chr5:42610250-42654999	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42607000-42621000	Weak transcription	Left Ventricle	heart
2	chr5:42610200-42620600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:42610800-42626800	Weak transcription	Pancreas	Pancrea
4	chr5:42613600-42620000	Weak transcription	HMEC	breast
5	chr5:42614000-42620800	Weak transcription	Fetal Lung	lung
6	chr5:42614200-42619400	Weak transcription	Adipose Nuclei	Adipose
7	chr5:42615200-42621000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:42615200-42621000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:42615600-42621200	Weak transcription	NHLF	lung
10	chr5:42615600-42626200	Weak transcription	Aorta	Aorta
11	chr5:42615800-42620600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:42616800-42621400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:42618000-42619400	Weak transcription	Psoas Muscle	Psoas
14	chr5:42618000-42619600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:42618400-42619400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr5:42618400-42621000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:42619200-42619600	Strong transcription	Liver	Liver
18	chr5:42619200-42620000	Enhancers	Skeletal Muscle Female	skeletal muscle

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