Variant report

Variant	rs572080612
Chromosome Location	chr19:42251215-42251216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42251200-42251350	RPTEC	kidney:	n/a	n/a
2	CTCF	chr19:42251120-42251270	GM12864	blood:	n/a	n/a
3	CTCF	chr19:42251160-42251310	AG09309	skin:	n/a	n/a
4	CTCF	chr19:42249898-42251667	A549	lung:	n/a	chr19:42250724-42250742 chr19:42250719-42250740
5	CTCF	chr19:42251100-42251250	AoAF	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42250749..42252304-chr19:42286973..42289582,3	MCF-7	breast:
2	chr19:42209137..42209823-chr19:42250235..42251244,3	MCF-7	breast:
3	chr19:42209556..42212105-chr19:42250130..42251602,39	MCF-7	breast:
4	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
5	chr19:42210648..42213513-chr19:42249142..42252570,4	MCF-7	breast:
6	chr19:42210533..42211382-chr19:42250275..42251260,3	K562	blood:
7	chr19:42249789..42252137-chr19:42296229..42297905,2	MCF-7	breast:
8	chr19:42238634..42240225-chr19:42250463..42251967,2	MCF-7	breast:
9	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
10	chr19:42210030..42211723-chr19:42249785..42251642,16	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
CEACAM6	TF binding region
ENSG00000007306	Chromatin interaction
ENSG00000267881	Chromatin interaction
ENSG00000105388	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	esv3425986	chr19:42212540-42259719	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv3430577	chr19:42247653-42285973	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv911774	chr19:42250325-42288821	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr19:42250600-42252400	Weak transcription	Colonic Mucosa	Colon
2	chr19:42250800-42251400	Enhancers	Esophagus	oesophagus
3	chr19:42250800-42253200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:42251000-42251400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
5	chr19:42251000-42254400	Weak transcription	Pancreas	Pancrea
6	chr19:42251200-42251400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr19:42251200-42252400	Weak transcription	Stomach Mucosa	stomach

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Input of quick search could be:

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

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