Variant report

Variant	rs4858117
Chromosome Location	chr3:24478577-24478578
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:24471972..24474391-chr3:24477875..24481695,3	K562	blood:
2	chr3:24476680..24478957-chr3:24482933..24484759,2	K562	blood:

Variant related genes	Relation type
ENSG00000229756	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1010163	1.00[JPT][hapmap]
rs13070456	1.00[JPT][hapmap]
rs13070554	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13077437	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13086758	1.00[JPT][hapmap]
rs13098564	1.00[JPT][hapmap]
rs13099463	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17787379	1.00[JPT][hapmap]
rs1865714	1.00[CHB][hapmap]
rs2196428	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2196432	1.00[JPT][hapmap]
rs35194357	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35317485	0.92[EUR][1000 genomes]
rs35570323	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35947386	0.95[EUR][1000 genomes]
rs3943744	1.00[JPT][hapmap]
rs56101205	0.91[EUR][1000 genomes]
rs6781559	0.88[CEU][hapmap]
rs6807873	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7619134	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7632924	1.00[CHB][hapmap]
rs9812620	1.00[JPT][hapmap]
rs9830855	1.00[CHB][hapmap]
rs9831133	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9883790	0.90[AMR][1000 genomes];0.93[EUR][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	nsv834640	chr3:24339779-24493605	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24458800-24490200	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:24470200-24479000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:24472600-24478800	Weak transcription	Fetal Lung	lung
4	chr3:24474600-24480000	Enhancers	Fetal Intestine Small	intestine
5	chr3:24474800-24483600	Enhancers	Fetal Intestine Large	intestine
6	chr3:24475400-24480000	Weak transcription	Pancreas	Pancrea
7	chr3:24475400-24480400	Enhancers	HepG2	liver
8	chr3:24476000-24479400	Enhancers	Liver	Liver
9	chr3:24477000-24479600	Weak transcription	Left Ventricle	heart
10	chr3:24477000-24480400	Weak transcription	K562	blood
11	chr3:24477000-24493000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:24477200-24490400	Weak transcription	Aorta	Aorta
13	chr3:24477200-24493000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:24477400-24481800	Weak transcription	Right Atrium	heart
15	chr3:24477400-24482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr3:24477800-24480800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:24478200-24478800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:24478200-24480200	Weak transcription	Right Ventricle	heart
19	chr3:24478200-24482400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:24478200-24491400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr3:24478400-24479600	Weak transcription	Psoas Muscle	Psoas
22	chr3:24478400-24490000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr3:24478400-24493400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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