Variant report

Variant	rs73115458
Chromosome Location	chr20:40647569-40647570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr20:40647508-40648082	MCF-7	breast:	n/a	n/a
2	RAD21	chr20:40647557-40647991	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr20:40647497-40648097	MCF-7	breast:	n/a	n/a
4	RAD21	chr20:40647534-40648003	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr20:40647522-40648074	MCF-7	breast:	n/a	n/a
6	RAD21	chr20:40647440-40648076	MCF-7	breast:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:40647561..40648111-chr3:943417..944121,2	MCF-7	breast:
2	chr20:40585063..40585585-chr20:40647501..40648295,2	MCF-7	breast:
3	chr20:40362868..40363717-chr20:40647339..40648278,3	MCF-7	breast:
4	chr20:40584661..40585630-chr20:40647278..40648249,12	MCF-7	breast:
5	chr20:40366989..40367893-chr20:40647466..40648275,6	MCF-7	breast:
6	chr20:40585759..40586528-chr20:40647402..40648048,2	MCF-7	breast:
7	chr20:40641988..40644961-chr20:40646504..40648867,2	K562	blood:
8	chr20:40375062..40375607-chr20:40647290..40648219,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228959	TF binding region
ENSG00000228959	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1884035	0.86[EUR][1000 genomes]
rs2223912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2866988	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3084007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35745973	0.88[EUR][1000 genomes]
rs41278134	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41278136	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs41278142	0.93[EUR][1000 genomes]
rs45500198	0.89[EUR][1000 genomes]
rs58841508	0.93[EUR][1000 genomes]
rs6016670	1.00[EUR][1000 genomes]
rs6016681	0.93[EUR][1000 genomes]
rs6016682	0.93[EUR][1000 genomes]
rs6029963	0.89[EUR][1000 genomes]
rs6029964	0.85[EUR][1000 genomes]
rs6029965	0.85[EUR][1000 genomes]
rs6029966	0.93[EUR][1000 genomes]
rs6093551	0.86[EUR][1000 genomes]
rs6102616	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6102641	0.98[EUR][1000 genomes]
rs6513754	0.89[EUR][1000 genomes]
rs6513765	0.93[EUR][1000 genomes]
rs73113854	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73113856	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73113859	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73113864	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73113865	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73113870	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73113872	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73115457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73115479	1.00[EUR][1000 genomes]
rs73115480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73117860	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73117872	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73117886	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73119803	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73119807	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73119811	0.86[EUR][1000 genomes]
rs73119815	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73119820	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73119823	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73119847	0.93[EUR][1000 genomes]
rs73119850	0.93[EUR][1000 genomes]
rs73122781	0.87[EUR][1000 genomes]
rs73122800	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73124713	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73124714	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73124722	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73124730	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73129112	0.93[EUR][1000 genomes]
rs73129138	0.93[EUR][1000 genomes]
rs73129147	0.93[EUR][1000 genomes]
rs73129161	0.93[EUR][1000 genomes]
rs73129169	0.93[EUR][1000 genomes]
rs73129170	0.93[EUR][1000 genomes]
rs73129173	0.89[EUR][1000 genomes]
rs73129176	0.93[EUR][1000 genomes]
rs73129180	0.93[EUR][1000 genomes]
rs73129186	0.93[EUR][1000 genomes]
rs73129195	0.89[EUR][1000 genomes]
rs73129199	0.89[EUR][1000 genomes]
rs73131104	0.89[EUR][1000 genomes]
rs73131116	0.89[EUR][1000 genomes]
rs8120362	0.89[EUR][1000 genomes]
rs8124637	0.93[EUR][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	nsv3381	chr20:39925326-40765696	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2751913	chr20:40422982-41269321	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv532516	chr20:40451059-41097155	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv912873	chr20:40601021-40675704	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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