Variant report

Variant	rs62113175
Chromosome Location	chr19:51345325-51345326
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr19:51345313-51345992	MCF-7	breast:	n/a	n/a
2	BRCA1	chr19:51345302-51345402	H1-hESC	embryonic stem cell:	n/a	n/a
3	GATA3	chr19:51345304-51345868	MCF-7	breast:	n/a	n/a
4	GATA3	chr19:51345238-51346037	MCF-7	breast:	n/a	n/a
5	SIN3AK20	chr19:51345223-51345890	MCF-7	breast:	n/a	n/a
6	GATA3	chr19:51345187-51346066	MCF-7	breast:	n/a	n/a
7	HDAC2	chr19:51345313-51345848	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51295703..51297977-chr19:51343216..51345571,2	MCF-7	breast:
2	chr19:51338317..51340292-chr19:51344781..51347697,2	MCF-7	breast:
3	chr19:51333758..51335834-chr19:51343030..51345902,2	K562	blood:
4	chr19:51307647..51309452-chr19:51342925..51345691,2	K562	blood:
5	chr19:51336643..51338613-chr19:51344192..51347019,2	K562	blood:
6	chr19:51338610..51340710-chr19:51343836..51345837,2	MCF-7	breast:
7	chr19:51339025..51341737-chr19:51344061..51346606,2	K562	blood:
8	chr19:51293190..51296916-chr19:51345248..51347668,4	K562	blood:
9	chr19:51344452..51347149-chr19:51350731..51353730,2	K562	blood:
10	chr19:51293967..51296916-chr19:51344198..51347543,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
KLK15	TF binding region
ENSG00000268375	Chromatin interaction
ENSG00000142513	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000267968	Chromatin interaction
ENSG00000174562	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10402571	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10413296	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17632611	0.85[EUR][1000 genomes]
rs55781558	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113179	0.88[EUR][1000 genomes]
rs62113213	0.86[EUR][1000 genomes]
rs7256136	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv2531	chr19:51333628-51378597	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51344800-51347400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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