Variant report

Variant	rs56363348
Chromosome Location	chr17:45931819-45931820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:45931740-45931890	GM06990	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45931240..45934148-chr17:45971745..45974291,3	MCF-7	breast:
2	chr17:45928961..45933138-chr17:45960892..45963467,3	K562	blood:
3	chr17:45921031..45932631-chr17:45970978..45975136,16	K562	blood:
4	chr17:45930221..45932836-chr17:45934311..45936272,2	MCF-7	breast:
5	chr17:45927036..45931880-chr17:45931939..45936922,11	K562	blood:
6	chr17:45928921..45932195-chr17:46017729..46021262,3	MCF-7	breast:
7	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:

No data

Variant related genes	Relation type
SP6	TF binding region
ENSG00000266821	Chromatin interaction
ENSG00000189120	Chromatin interaction
ENSG00000108439	Chromatin interaction
ENSG00000234494	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000167182	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12451260	1.00[EUR][1000 genomes]
rs12603133	1.00[AMR][1000 genomes]
rs12941306	1.00[AMR][1000 genomes]
rs12942412	1.00[AMR][1000 genomes]
rs12944699	1.00[AMR][1000 genomes]
rs12945188	1.00[AMR][1000 genomes]
rs12945362	1.00[AMR][1000 genomes]
rs12945768	1.00[AMR][1000 genomes]
rs12947761	1.00[AMR][1000 genomes]
rs12947966	1.00[AMR][1000 genomes]
rs12948207	1.00[AMR][1000 genomes]
rs34033530	1.00[AMR][1000 genomes]
rs34038169	1.00[AMR][1000 genomes]
rs34153693	1.00[AMR][1000 genomes]
rs34166016	1.00[AMR][1000 genomes]
rs34358803	1.00[AMR][1000 genomes]
rs34632031	1.00[AMR][1000 genomes]
rs34822864	1.00[AMR][1000 genomes]
rs34958507	1.00[AMR][1000 genomes]
rs35273388	1.00[AMR][1000 genomes]
rs35534834	1.00[AMR][1000 genomes]
rs35551276	1.00[AMR][1000 genomes]
rs35647888	1.00[AMR][1000 genomes]
rs35677091	1.00[AMR][1000 genomes]
rs35711165	1.00[AMR][1000 genomes]
rs35751035	1.00[AMR][1000 genomes]
rs35766594	1.00[AMR][1000 genomes]
rs35795560	1.00[AMR][1000 genomes]
rs35848720	1.00[AMR][1000 genomes]
rs35928933	1.00[AMR][1000 genomes]
rs36059789	1.00[AMR][1000 genomes]
rs36090279	1.00[AMR][1000 genomes]
rs56078988	1.00[AMR][1000 genomes]
rs57948485	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58974249	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59483607	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59727791	1.00[AMR][1000 genomes]
rs60224300	1.00[AMR][1000 genomes]
rs6503951	1.00[AMR][1000 genomes]
rs71377331	1.00[AMR][1000 genomes]
rs71377332	1.00[AMR][1000 genomes]
rs71377334	1.00[AMR][1000 genomes]
rs71377338	1.00[AMR][1000 genomes]
rs71377341	1.00[AMR][1000 genomes]
rs71377342	1.00[AMR][1000 genomes]
rs73985416	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985417	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985418	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985419	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985424	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8075711	1.00[AMR][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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv517880	chr17:45887951-45933341	Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45929800-45940000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr17:45930200-45933000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr17:45930600-45932800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr17:45930800-45935600	Weak transcription	K562	blood
5	chr17:45931400-45932200	Weak transcription	Lung	lung
6	chr17:45931600-45932000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:45931800-45932800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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