Variant report

Variant	rs4613243
Chromosome Location	chr2:168031001-168031002
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10497319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12621191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853193	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16853357	1.00[AFR][1000 genomes]
rs57654594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59091135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59955159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60956823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168016200-168034200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:168030400-168032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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