Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42544256..42546787-chr5:42549790..42551375,3	K562	blood:
2	chr5:42545086..42547088-chr5:42551708..42554423,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10941578	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11948453	0.90[JPT][hapmap]
rs11949751	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs12515372	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12520276	0.83[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12521020	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs13160458	0.89[JPT][hapmap]
rs28943879	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs4075783	0.89[JPT][hapmap];1.00[AFR][1000 genomes]
rs4242115	0.90[JPT][hapmap];1.00[AFR][1000 genomes]
rs4305645	0.90[JPT][hapmap];1.00[AFR][1000 genomes]
rs4484445	1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4489074	0.83[CHB][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes]
rs4493680	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs4504390	0.90[JPT][hapmap]
rs4533898	1.00[AFR][1000 genomes]
rs4554233	0.90[JPT][hapmap]
rs4866791	0.90[JPT][hapmap]
rs4866936	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs6451626	0.90[JPT][hapmap];1.00[AFR][1000 genomes]
rs6859653	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs6887718	0.90[JPT][hapmap];1.00[AFR][1000 genomes]
rs6896667	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs7703713	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs7721816	0.90[JPT][hapmap];1.00[AFR][1000 genomes]
rs7735889	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs9968669	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42539800-42552000	Weak transcription	Ovary	ovary
2	chr5:42541000-42552400	Weak transcription	Aorta	Aorta
3	chr5:42544200-42551000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:42544400-42549200	Weak transcription	Psoas Muscle	Psoas
5	chr5:42544400-42551000	Weak transcription	Fetal Heart	heart
6	chr5:42544800-42553200	Weak transcription	Fetal Intestine Large	intestine
7	chr5:42545600-42549600	Enhancers	Fetal Lung	lung
8	chr5:42545800-42548400	Enhancers	Liver	Liver
9	chr5:42546400-42547000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr5:42546400-42548200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:42546400-42548400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:42546400-42550400	Enhancers	Fetal Stomach	stomach
13	chr5:42546400-42553800	Enhancers	Adipose Nuclei	Adipose
14	chr5:42546600-42547400	Weak transcription	Left Ventricle	heart
15	chr5:42546600-42547400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:42546600-42550000	Weak transcription	Right Ventricle	heart
17	chr5:42546600-42550200	Enhancers	Colon Smooth Muscle	Colon
18	chr5:42546600-42552000	Weak transcription	Right Atrium	heart

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