Variant report

Variant	rs13129180
Chromosome Location	chr4:110686413-110686414
allele	A/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:3)
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	RCOR1	chr4:110686277-110686816	K562	blood:	n/a	n/a
2	ZMIZ1	chr4:110686280-110686553	K562	blood:	n/a	n/a
3	JUND	chr4:110686153-110686595	K562	blood:	n/a	n/a
4	CEBPB	chr4:110686184-110686457	K562	blood:	n/a	n/a
5	TBL1XR1	chr4:110686282-110686627	K562	blood:	n/a	n/a
6	TAL1	chr4:110686155-110686569	K562	blood:	n/a	n/a
7	EP300	chr4:110685568-110686585	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:110684221..110686871-chr4:110694444..110697406,3	K562	blood:
2	chr4:110685353..110687953-chr4:110736062..110738998,3	K562	blood:
3	chr4:110684027..110686689-chr4:110739417..110742962,3	K562	blood:

No data

Variant related genes	Relation type
CFI	TF binding region
ENSG00000272795	Chromatin interaction
ENSG00000109534	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10016598	0.85[ASN][1000 genomes]
rs10049804	0.87[ASN][1000 genomes]
rs10857001	0.87[ASN][1000 genomes]
rs11098046	1.00[ASN][1000 genomes]
rs11721403	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]
rs11734208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108145	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17040826	1.00[CEU][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17610314	0.84[EUR][1000 genomes]
rs2298749	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3822272	1.00[CEU][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4299581	0.87[ASN][1000 genomes]
rs4404543	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469075	0.87[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4541508	0.82[CHB][hapmap];0.83[CHD][hapmap];0.87[JPT][hapmap]
rs4698784	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.84[MKK][hapmap]
rs4698790	0.86[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs62324896	0.86[EUR][1000 genomes]
rs6836770	0.86[TSI][hapmap]
rs7356506	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7438961	0.91[CHB][hapmap];0.89[CHD][hapmap];0.91[JPT][hapmap];0.85[MKK][hapmap]
rs7439356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7442601	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7675460	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs885448	0.83[EUR][1000 genomes]
rs9647471	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9654197	0.86[ASN][1000 genomes]
rs9714929	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv4463	chr4:110647731-110693125	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110659200-110689000	Weak transcription	Fetal Intestine Large	intestine
2	chr4:110665000-110690400	Weak transcription	Fetal Intestine Small	intestine
3	chr4:110670600-110692000	Weak transcription	Pancreas	Pancrea
4	chr4:110685400-110686800	Enhancers	Liver	Liver
5	chr4:110685400-110687000	Enhancers	K562	blood
6	chr4:110685400-110687600	Strong transcription	HepG2	liver
7	chr4:110685600-110686800	Enhancers	Fetal Lung	lung
8	chr4:110685800-110687400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr4:110686000-110686600	Enhancers	Colon Smooth Muscle	Colon
10	chr4:110686000-110687400	Enhancers	Ovary	ovary

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