Variant report

Variant	rs8101496
Chromosome Location	chr19:38851318-38851319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:38850909-38853674	A549	lung:	n/a	chr19:38852144-38852154
2	CEBPB	chr19:38851109-38851389	K562	blood:	n/a	n/a
3	CEBPB	chr19:38851094-38851367	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38843850..38848913-chr19:38849820..38852865,6	K562	blood:
2	chr19:38745341..38747261-chr19:38850863..38853246,2	K562	blood:
3	chr19:38851019..38853857-chr19:38863435..38867110,13	MCF-7	breast:
4	chr19:38851103..38853998-chr19:38877778..38880419,3	K562	blood:
5	chr19:38850348..38855103-chr19:38862504..38867180,11	K562	blood:
6	chr19:38826255..38829380-chr19:38850634..38854376,3	MCF-7	breast:
7	chr19:38851022..38852568-chr5:122434797..122437026,2	MCF-7	breast:
8	chr19:36629391..36631341-chr19:38851035..38853209,2	MCF-7	breast:
9	chr19:38849999..38854779-chr19:38863669..38868606,10	K562	blood:
10	chr19:38831821..38834669-chr19:38850986..38853085,2	MCF-7	breast:
11	chr19:38849976..38851523-chr19:38865521..38867449,2	MCF-7	breast:
12	chr19:38846299..38848988-chr19:38850348..38854198,4	MCF-7	breast:
13	chr19:38845897..38848818-chr19:38850039..38852720,3	K562	blood:
14	chr19:38718872..38720876-chr19:38850703..38853087,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
CATSPERG	TF binding region
ENSG00000099341	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000011332	Chromatin interaction
ENSG00000179168	Chromatin interaction
ENSG00000126247	Chromatin interaction
ENSG00000188766	Chromatin interaction
ENSG00000061455	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10416962	0.91[AMR][1000 genomes]
rs16972636	1.00[EUR][1000 genomes]
rs16972639	1.00[EUR][1000 genomes]
rs2459635	1.00[EUR][1000 genomes]
rs2915943	1.00[EUR][1000 genomes]
rs2960353	1.00[EUR][1000 genomes]
rs34694816	1.00[EUR][1000 genomes]
rs56942001	1.00[EUR][1000 genomes]
rs58496534	1.00[EUR][1000 genomes]
rs59112185	1.00[EUR][1000 genomes]
rs59703889	1.00[EUR][1000 genomes]
rs60228500	1.00[EUR][1000 genomes]
rs7245673	1.00[EUR][1000 genomes]
rs7258503	1.00[EUR][1000 genomes]
rs7259341	1.00[EUR][1000 genomes]
rs73635735	1.00[EUR][1000 genomes]
rs73933018	1.00[EUR][1000 genomes]
rs8104818	1.00[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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
2	chr19:38835200-38852000	Weak transcription	Pancreas	Pancrea
3	chr19:38849400-38851800	Weak transcription	Lung	lung
4	chr19:38850400-38851800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:38850600-38851800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
6	chr19:38850800-38851800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr19:38851000-38852400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr19:38851200-38851400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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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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