Variant report

Variant	rs45445592
Chromosome Location	chr1:74886692-74886693
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10493538	1.00[AMR][1000 genomes]
rs17094941	1.00[AMR][1000 genomes]
rs17095144	1.00[AMR][1000 genomes]
rs17095167	1.00[AMR][1000 genomes]
rs17095262	1.00[AMR][1000 genomes]
rs17095267	1.00[AMR][1000 genomes]
rs17095278	0.94[AFR][1000 genomes]
rs17095283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095291	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095317	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45492606	1.00[AMR][1000 genomes]
rs45533531	1.00[AMR][1000 genomes]
rs45545940	1.00[AMR][1000 genomes]
rs45585745	1.00[AMR][1000 genomes]
rs74093559	1.00[AMR][1000 genomes]
rs74093565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74093650	1.00[AMR][1000 genomes]
rs74093653	1.00[AMR][1000 genomes]
rs74093683	1.00[AMR][1000 genomes]
rs74096708	1.00[AMR][1000 genomes]
rs7511665	1.00[AMR][1000 genomes]
rs7534886	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
5	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1002903	chr1:74831209-74993866	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74878600-74898800	Weak transcription	Left Ventricle	heart
2	chr1:74884600-74886800	Enhancers	Fetal Heart	heart
3	chr1:74885800-74888800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:74885800-74890200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:74886000-74889200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:74886000-74889200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:74886200-74886800	Enhancers	Fetal Lung	lung
8	chr1:74886400-74890600	Weak transcription	Rectal Smooth Muscle	rectum

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