Variant report

Variant	rs73950952
Chromosome Location	chr18:39178127-39178128
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10048345	1.00[AMR][1000 genomes]
rs10084019	1.00[AMR][1000 genomes]
rs10163863	1.00[AMR][1000 genomes]
rs10163951	1.00[AMR][1000 genomes]
rs10164168	1.00[AMR][1000 genomes]
rs10468955	1.00[AMR][1000 genomes]
rs10502768	1.00[AMR][1000 genomes]
rs12327187	1.00[AMR][1000 genomes]
rs1545056	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16974747	1.00[AMR][1000 genomes]
rs16974835	1.00[AMR][1000 genomes]
rs16974997	1.00[AMR][1000 genomes]
rs16975126	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16975325	1.00[AMR][1000 genomes]
rs58356161	1.00[AMR][1000 genomes]
rs73953311	1.00[AMR][1000 genomes]
rs9807141	1.00[AMR][1000 genomes]
rs9807239	1.00[AMR][1000 genomes]
rs9807489	1.00[AMR][1000 genomes]
rs9963615	1.00[AMR][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	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39167000-39181600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr18:39174800-39190400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:39176200-39182400	Weak transcription	Fetal Heart	heart
4	chr18:39177800-39178200	Enhancers	hESC Derived CD184+ Endoderm 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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