Variant report

Variant	rs73118087
Chromosome Location	chr1:224523298-224523299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58076906	1.00[AMR][1000 genomes]
rs61424101	1.00[AMR][1000 genomes]
rs61546171	1.00[AMR][1000 genomes]
rs73118068	1.00[AMR][1000 genomes]
rs73118072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73118092	1.00[AMR][1000 genomes]
rs73121832	1.00[AMR][1000 genomes]
rs73121839	1.00[AMR][1000 genomes]
rs73121851	1.00[AMR][1000 genomes]
rs73127512	1.00[AMR][1000 genomes]
rs73131619	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224518600-224526200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:224518600-224528600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:224519200-224526200	Weak transcription	HepG2	liver
4	chr1:224521600-224527000	Weak transcription	A549	lung
5	chr1:224521600-224528400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:224521600-224528600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:224521800-224528600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:224522000-224524600	Weak transcription	GM12878-XiMat	blood
9	chr1:224522200-224526400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:224522200-224528400	Weak transcription	HUVEC	blood vessel
11	chr1:224522400-224527000	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:224522600-224528400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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