Variant report

Variant	rs58334454
Chromosome Location	chr17:20005007-20005008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20002270..20005089-chr17:20012267..20015383,3	K562	blood:

Variant related genes	Relation type
ENSG00000225014	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57127528	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58338147	1.00[AMR][1000 genomes]
rs58748150	1.00[AMR][1000 genomes]
rs60321315	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60740483	1.00[AMR][1000 genomes]
rs7215558	1.00[AMR][1000 genomes]
rs7225930	1.00[AMR][1000 genomes]
rs73980789	1.00[AMR][1000 genomes]
rs73980790	1.00[AMR][1000 genomes]
rs73980791	1.00[AMR][1000 genomes]
rs73980793	1.00[AMR][1000 genomes]
rs73980794	1.00[AMR][1000 genomes]
rs73980795	1.00[AMR][1000 genomes]
rs73980797	1.00[AMR][1000 genomes]
rs73981806	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981808	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981810	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73984562	1.00[AMR][1000 genomes]
rs73984563	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8066256	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	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv907868	chr17:19768924-20217122	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1060337	chr17:19828636-20204872	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv543257	chr17:19828636-20204872	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv907871	chr17:19927699-20088492	Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv482438	chr17:19934376-20089005	Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv833395	chr17:19969959-20124084	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19993400-20006400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:19993800-20006400	Weak transcription	Esophagus	oesophagus
3	chr17:19993800-20008800	Weak transcription	GM12878-XiMat	blood
4	chr17:19999000-20006000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr17:19999000-20032800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr17:19999200-20008800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:19999400-20005600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:19999400-20011800	Weak transcription	A549	lung
9	chr17:20000000-20005600	Weak transcription	Brain Substantia Nigra	brain
10	chr17:20000200-20006200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr17:20000600-20006600	Weak transcription	Ovary	ovary
12	chr17:20002200-20005400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr17:20002200-20005800	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:20002200-20018800	Weak transcription	Spleen	Spleen
15	chr17:20002200-20033400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr17:20002400-20005400	Weak transcription	Brain Anterior Caudate	brain
17	chr17:20002400-20006400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr17:20002400-20013600	Weak transcription	Aorta	Aorta
19	chr17:20002600-20006400	Weak transcription	Brain Angular Gyrus	brain
20	chr17:20004000-20013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:20004600-20007000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:20004600-20008400	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr17:20004800-20006200	Strong transcription	Adipose Nuclei	Adipose
24	chr17:20004800-20007600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:20005000-20005200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr17:20005000-20005200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:20005000-20005400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr17:20005000-20005800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:20005000-20007000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr17:20005000-20007200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:20005000-20007600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr17:20005000-20007800	Strong transcription	Primary monocytes fromperipheralblood	blood

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