Variant report

Variant	rs34581109
Chromosome Location	chr5:90579288-90579289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr5:90579201-90579502	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr5:90579280-90579475	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr5:90579187-90579511	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr5:90579242-90579490	Hela-S3	cervix:	n/a	n/a
5	FOS	chr5:90579238-90579500	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:90574749..90579554-chr5:90606387..90610471,6	MCF-7	breast:
2	chr5:90577977..90579525-chr5:90625144..90627045,2	K562	blood:
3	chr5:90574103..90582351-chr5:90673173..90681609,28	K562	blood:
4	chr5:90573090..90582351-chr5:90673821..90680716,23	K562	blood:

Variant related genes	Relation type
ENSG00000234292	TF binding region
ENSG00000271762	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000248323	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10474349	0.81[ASN][1000 genomes]
rs10942627	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12522282	0.83[AMR][1000 genomes]
rs13156743	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13166594	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13172199	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13185895	0.87[AMR][1000 genomes]
rs13360803	0.81[ASN][1000 genomes]
rs2941890	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2941892	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2973461	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2973464	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2973467	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34422832	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34736685	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35059634	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs35363385	0.83[AMR][1000 genomes]
rs35584449	0.89[AMR][1000 genomes]
rs71637328	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71637330	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71637331	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9293563	0.81[AMR][1000 genomes];0.81[ASN][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	nsv1024813	chr5:90321535-90870739	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv537806	chr5:90321535-90870739	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90576800-90583800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:90577200-90580200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:90577400-90580400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr5:90577400-90580400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:90577400-90580800	Enhancers	Hela-S3	cervix
6	chr5:90577400-90581000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:90577600-90579400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:90577600-90579400	Weak transcription	Small Intestine	intestine
9	chr5:90577600-90579600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:90577600-90579800	Weak transcription	HSMM	muscle
11	chr5:90577600-90583800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:90577800-90579400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:90577800-90583800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:90578000-90579400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:90578000-90579400	Weak transcription	A549	lung
16	chr5:90578000-90579600	Weak transcription	NHLF	lung
17	chr5:90578200-90580000	Weak transcription	NH-A	brain
18	chr5:90578400-90579400	Weak transcription	NHDF-Ad	bronchial
19	chr5:90578400-90579600	Weak transcription	HUVEC	blood vessel
20	chr5:90578600-90580200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:90579200-90579600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr5:90579200-90579800	Enhancers	Stomach Mucosa	stomach
23	chr5:90579200-90580000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:90579200-90580200	Enhancers	HMEC	breast
25	chr5:90579200-90580200	Enhancers	NHEK	skin
26	chr5:90579200-90580400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:90579200-90580400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:90579200-90580400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr5:90579200-90580400	Enhancers	Osteobl	bone
30	chr5:90579200-90580600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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