Variant report

Variant	rs57923199
Chromosome Location	chr5:74444112-74444113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11952940	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11955901	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs11956613	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11959556	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57091259	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57128332	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57155346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57350864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58869372	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59226666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59388080	0.84[EUR][1000 genomes]
rs59641773	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59992948	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs60342717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60349474	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs6870950	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6893867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6894556	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6895538	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6898122	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73114819	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73114824	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73114825	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73114836	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73114854	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73116837	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73116843	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73116846	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73127360	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127366	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127392	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73129052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73131026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73131031	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73131051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73131069	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7717760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7720035	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7722905	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv882189	chr5:74356857-74478078	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74439600-74449000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:74440400-74448000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:74441800-74444600	Enhancers	Primary T cells from cord blood	blood
4	chr5:74441800-74444600	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:74443200-74444200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:74443600-74444400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr5:74443600-74444600	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr5:74443600-74444600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr5:74443600-74447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:74443800-74444200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr5:74443800-74444200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:74443800-74444400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:74443800-74444400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:74443800-74444400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr5:74443800-74444400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:74443800-74444400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:74444000-74444200	Enhancers	Thymus	Thymus
18	chr5:74444000-74444400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr5:74444000-74444400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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