Variant report

Variant	rs59019490
Chromosome Location	chr5:177969530-177969531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177841800..177844284-chr5:177969427..177971380,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs56080876	1.00[AMR][1000 genomes]
rs57747314	1.00[AMR][1000 genomes]
rs58190465	1.00[AMR][1000 genomes]
rs59428600	1.00[AMR][1000 genomes]
rs61153136	1.00[AMR][1000 genomes]
rs73338678	1.00[AMR][1000 genomes]
rs73338684	1.00[AMR][1000 genomes]
rs73340607	1.00[AMR][1000 genomes]
rs73340609	1.00[AMR][1000 genomes]
rs73342643	1.00[AMR][1000 genomes]
rs73342652	1.00[AMR][1000 genomes]
rs73342669	1.00[AMR][1000 genomes]
rs73342699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344410	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344414	1.00[AMR][1000 genomes]
rs73344415	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344421	0.90[AFR][1000 genomes]
rs73344429	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344439	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73344441	1.00[AMR][1000 genomes]
rs73344468	1.00[AMR][1000 genomes]
rs73803492	1.00[AMR][1000 genomes]
rs7704489	1.00[AMR][1000 genomes]
rs7704682	1.00[AMR][1000 genomes]
rs7725137	1.00[AMR][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv883215	chr5:177961860-177980792	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177954600-177973800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr5:177963000-177971200	Weak transcription	Right Atrium	heart
3	chr5:177965200-177971600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:177965800-177972400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:177968000-177970600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr5:177968400-177970800	Enhancers	Fetal Stomach	stomach
7	chr5:177968600-177969800	Enhancers	Fetal Heart	heart
8	chr5:177968600-177979400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr5:177968800-177970200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:177968800-177970200	Enhancers	Stomach Smooth Muscle	stomach
11	chr5:177968800-177970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:177968800-177971200	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr5:177968800-177974600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr5:177969200-177970000	Weak transcription	Left Ventricle	heart
15	chr5:177969200-177971200	Weak transcription	Right Ventricle	heart
16	chr5:177969400-177969800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:177969400-177970000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:177969400-177970000	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:177969400-177970000	Enhancers	Rectal Smooth Muscle	rectum
20	chr5:177969400-177970200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr5:177969400-177970400	Enhancers	Fetal Lung	lung
22	chr5:177969400-177970600	Enhancers	Fetal Muscle Trunk	muscle
23	chr5:177969400-177970800	Enhancers	Monocytes-CD14+_RO01746	blood

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