Variant report

Variant	rs5998204
Chromosome Location	chr22:32397879-32397880
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	22:32360288-32405313..22:32764253-32784733	K562	blood:
2	22:32360288-32405313..22:32868055-32872511	K562	blood:
3	22:32012966-32043914..22:32360288-32405313	K562	blood:
4	22:32360288-32405313..22:33452523-33459358	H1-hESC	embryonic stem cell:	embryo
5	22:32360288-32405313..22:32750950-32761732	K562	blood:
6	22:32360288-32405313..22:32860159-32865649	K562	blood:
7	22:32360288-32405313..22:32740683-32750950	K562	blood:

Variant related genes	Relation type
ENSG00000241878	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000184459	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000100225	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs130260	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs130261	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs130262	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13055495	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs135020	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs135021	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs135023	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1807550	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1986211	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2246704	0.84[EUR][1000 genomes]
rs2413061	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2858753	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3747158	0.80[EUR][1000 genomes]
rs4820065	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4821004	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5753852	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5994457	0.81[EUR][1000 genomes]
rs5994458	0.81[EUR][1000 genomes]
rs5994461	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5998196	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5998198	0.83[EUR][1000 genomes]
rs5998201	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8142505	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1063267	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv544679	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv1824873	chr22:32385406-32403318	Enhancers Weak transcription	Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32396800-32401200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr22:32397400-32401200	Weak transcription	Placenta	Placenta
3	chr22:32397600-32400800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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