Variant report

Variant	rs60467951
Chromosome Location	chr19:52034506-52034507
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16982743	0.81[ASN][1000 genomes]
rs16982770	0.90[EUR][1000 genomes]
rs17305017	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56815351	0.88[ASN][1000 genomes]
rs58356296	0.96[ASN][1000 genomes]
rs58758423	0.88[ASN][1000 genomes]
rs59302710	0.88[ASN][1000 genomes]
rs60618267	1.00[ASN][1000 genomes]
rs7247380	0.88[ASN][1000 genomes]
rs73560996	0.96[ASN][1000 genomes]
rs8100001	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52031800-52034600	Weak transcription	K562	blood
2	chr19:52032600-52035200	Flanking Active TSS	Placenta	Placenta
3	chr19:52033400-52035600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:52033600-52035600	Flanking Active TSS	Primary B cells from peripheral blood	blood
5	chr19:52034200-52034600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:52034200-52034600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52034200-52035000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr19:52034200-52035400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:52034200-52035400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:52034200-52035600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:52034200-52035600	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:52034400-52034600	Enhancers	Primary B cells from cord blood	blood
13	chr19:52034400-52034600	Enhancers	Colonic Mucosa	Colon
14	chr19:52034400-52034800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:52034400-52035000	Enhancers	GM12878-XiMat	blood
16	chr19:52034400-52035400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum

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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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