Variant report

Variant	rs17320558
Chromosome Location	chr6:25727527-25727528
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:25726265-25727575	K562	blood:	n/a	n/a
2	POLR2A	chr6:25726078-25727679	K562	blood:	n/a	n/a
3	POLR2A	chr6:25726297-25727684	K562	blood:	n/a	n/a
4	POLR2A	chr6:25725621-25728449	K562	blood:	n/a	n/a
5	POLR2A	chr6:25726283-25728295	K562	blood:	n/a	n/a
6	POLR2A	chr6:25726081-25727575	K562	blood:	n/a	n/a
7	POLR2A	chr6:25726276-25727598	K562	blood:	n/a	n/a
8	CEBPD	chr6:25725966-25727592	K562	blood:	n/a	n/a
9	PML	chr6:25726167-25727552	K562	blood:	n/a	n/a
10	TAF1	chr6:25727317-25727579	K562	blood:	n/a	n/a
11	HEY1	chr6:25725670-25728569	K562	blood:	n/a	n/a
12	POLR2A	chr6:25725688-25728100	K562	blood:	n/a	n/a
13	BCLAF1	chr6:25725654-25727678	K562	blood:	n/a	chr6:25725790-25725799
14	NR2F2	chr6:25727201-25727663	K562	blood:	n/a	n/a
15	HEY1	chr6:25726177-25727588	K562	blood:	n/a	n/a
16	POLR2A	chr6:25725813-25727544	K562	blood:	n/a	n/a
17	POLR2A	chr6:25725975-25727623	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:25724700..25728805-chr6:26024464..26033486,16	K562	blood:
2	chr6:25725904..25728723-chr6:26024464..26030208,7	K562	blood:
3	chr6:25726594..25729863-chr6:25991893..25994558,4	K562	blood:
4	chr6:25726417..25728737-chr6:26124112..26125886,2	K562	blood:
5	chr6:25725442..25728537-chr6:25991436..25993393,3	K562	blood:
6	chr5:177631720..177633728-chr6:25726576..25729132,2	K562	blood:

No data

Variant related genes	Relation type
HIST1H2AA	TF binding region
ENSG00000124529	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000272462	Chromatin interaction
ENSG00000180596	Chromatin interaction
ENSG00000124693	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1359231	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs17268697	0.89[CEU][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17269374	0.80[EUR][1000 genomes]
rs17492659	0.89[CEU][hapmap];0.82[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2154217	0.80[EUR][1000 genomes]
rs2328892	0.80[EUR][1000 genomes]
rs41271827	0.80[EUR][1000 genomes]
rs4145220	0.80[EUR][1000 genomes]
rs4236036	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4395714	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57053773	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59537771	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62392667	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62392668	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62392670	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62392671	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62392673	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62392674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62392676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62392694	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62392695	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62392696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62392731	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62392732	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62392734	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62392736	0.80[EUR][1000 genomes]
rs62392752	0.80[EUR][1000 genomes]
rs62392756	0.83[EUR][1000 genomes]
rs62392759	0.81[EUR][1000 genomes]
rs62393720	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62394267	0.81[EUR][1000 genomes]
rs62394268	0.81[EUR][1000 genomes]
rs72840306	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72840350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72843538	0.81[EUR][1000 genomes]
rs9461202	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv883488	chr6:25592489-25731691	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
4	nsv427747	chr6:25641380-25908218	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr6:25726800-25732600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:25727000-25727600	Flanking Bivalent TSS/Enh	K562	blood
3	chr6:25727400-25728000	Enhancers	HepG2	liver

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