Variant report

Variant	rs72759096
Chromosome Location	chr5:42924316-42924317
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:42923915..42925843-chr5:42928024..42929691,2	K562	blood:
2	chr5:42919032..42920637-chr5:42923074..42925674,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC152-1	chr5:42923787-42924839	XLOC_004361

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16874465	0.81[EUR][1000 genomes]
rs2444853	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2548363	0.85[EUR][1000 genomes]
rs2548367	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2548368	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2603635	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2924818	0.83[EUR][1000 genomes]
rs309920	0.83[EUR][1000 genomes]
rs309928	0.81[EUR][1000 genomes]
rs309943	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs309944	0.92[EUR][1000 genomes]
rs309945	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55981030	0.81[AMR][1000 genomes]
rs72759052	0.81[AMR][1000 genomes]
rs72759060	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72759062	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72759067	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72759071	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72759072	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72759073	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72759075	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72759077	0.83[EUR][1000 genomes]
rs72759084	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72759085	0.85[EUR][1000 genomes]
rs72759086	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72759087	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72759093	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72759095	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72759097	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
7	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv980936	chr5:42894375-42930741	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv968909	chr5:42903982-42953465	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv1806082	chr5:42906572-42967215	Transcr. at gene 5' and 3' Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv1813779	chr5:42906572-42992040	Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv969923	chr5:42919063-42930741	Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv3346992	chr5:42921680-42970055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42916000-42929400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:42924000-42924400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:42924000-42924600	Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr5:42924000-42924600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:42924000-42924800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:42924200-42924400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:42924200-42924400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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