Variant report

Variant	rs25790
Chromosome Location	chr5:111312865-111312866
allele	A/C
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	TCF12	chr5:111312205-111312993	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr5:111312293-111312993	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr5:111312535-111313150	IMR90	lung:	n/a	n/a
4	EP300	chr5:111312426-111312896	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr5:111312380-111312882	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
NREP	TF binding region

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10042500	0.85[ASN][1000 genomes]
rs10050950	0.92[ASN][1000 genomes]
rs10071922	0.85[ASN][1000 genomes]
rs10072425	0.84[ASN][1000 genomes]
rs10463623	0.81[JPT][hapmap]
rs10463624	0.85[JPT][hapmap]
rs1116411	0.85[ASN][1000 genomes]
rs11241146	0.81[JPT][hapmap]
rs11959944	0.80[ASN][1000 genomes]
rs12187919	0.92[ASN][1000 genomes]
rs12516031	0.83[ASN][1000 genomes]
rs12516065	0.83[ASN][1000 genomes]
rs12520308	0.89[ASN][1000 genomes]
rs1389849	0.83[ASN][1000 genomes]
rs1389850	0.86[ASN][1000 genomes]
rs1389851	0.86[ASN][1000 genomes]
rs1494592	0.84[ASN][1000 genomes]
rs1507844	0.83[CEU][hapmap];0.91[CHB][hapmap]
rs1540687	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs1603082	0.85[ASN][1000 genomes]
rs2047070	0.83[GIH][hapmap];0.81[JPT][hapmap]
rs26541	0.85[EUR][1000 genomes]
rs26543	0.82[JPT][hapmap];0.83[MEX][hapmap]
rs26546	0.84[EUR][1000 genomes]
rs26557	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs26558	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs26561	0.86[EUR][1000 genomes]
rs26562	0.86[EUR][1000 genomes]
rs26563	0.86[EUR][1000 genomes]
rs27535	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34924	0.80[GIH][hapmap];0.85[JPT][hapmap]
rs34942	0.85[JPT][hapmap]
rs35091869	0.83[ASN][1000 genomes]
rs35303575	0.83[EUR][1000 genomes]
rs35658682	0.81[EUR][1000 genomes]
rs36069145	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36133922	0.91[EUR][1000 genomes]
rs41142	0.86[EUR][1000 genomes]
rs4296844	0.81[ASN][1000 genomes]
rs4596433	0.81[ASN][1000 genomes]
rs466033	0.94[ASW][hapmap];0.91[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs490821	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491101	0.96[ASN][1000 genomes]
rs4957627	0.95[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs4957977	0.85[JPT][hapmap]
rs4957978	0.85[JPT][hapmap]
rs505575	0.87[ASN][1000 genomes]
rs512479	0.87[ASN][1000 genomes]
rs560063	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586262	0.98[ASN][1000 genomes]
rs608642	0.87[ASN][1000 genomes]
rs622972	0.88[ASN][1000 genomes]
rs638424	0.90[ASN][1000 genomes]
rs6594545	0.83[CHB][hapmap]
rs6594552	0.85[ASN][1000 genomes]
rs6871530	0.81[ASN][1000 genomes]
rs7710690	0.80[JPT][hapmap]
rs7716521	0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs7728826	0.85[ASN][1000 genomes]
rs9326846	0.81[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr5:111305800-111313400	Weak transcription	Primary B cells from cord blood	blood
2	chr5:111309400-111313800	Enhancers	Osteobl	bone
3	chr5:111309800-111313000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:111309800-111319600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:111310600-111314000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:111311000-111315800	Weak transcription	Psoas Muscle	Psoas
7	chr5:111311200-111320000	Weak transcription	Left Ventricle	heart
8	chr5:111311200-111320000	Weak transcription	Right Ventricle	heart
9	chr5:111311400-111313000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:111311800-111313000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:111311800-111313000	Enhancers	Rectal Smooth Muscle	rectum
12	chr5:111311800-111313000	Enhancers	NHDF-Ad	bronchial
13	chr5:111311800-111313600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:111312000-111313000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:111312000-111313000	Enhancers	Colon Smooth Muscle	Colon
16	chr5:111312000-111313000	Enhancers	Fetal Lung	lung
17	chr5:111312200-111313000	Enhancers	NH-A	brain
18	chr5:111312200-111313200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:111312400-111313000	Enhancers	HSMMtube	muscle
20	chr5:111312400-111313400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:111312800-111313000	Enhancers	Fetal Stomach	stomach
22	chr5:111312800-111313200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:111312800-111319000	Weak transcription	NHLF	lung

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