Variant report

Variant	rs4866746
Chromosome Location	chr5:43486566-43486567
allele	A/G
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	CEBPB	chr5:43486472-43487036	K562	blood:	n/a	chr5:43486623-43486634
2	CEBPB	chr5:43486491-43487039	HepG2	liver:	n/a	chr5:43486623-43486634
3	CEBPB	chr5:43486431-43486831	K562	blood:	n/a	chr5:43486623-43486634
4	CEBPB	chr5:43486477-43486774	HepG2	liver:	n/a	chr5:43486623-43486634
5	MAFF	chr5:43486547-43486622	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43486106..43488978-chr5:43507270..43509825,2	K562	blood:
2	chr5:43283734..43286353-chr5:43486152..43488846,2	K562	blood:
3	chr5:43395776..43403836-chr5:43482661..43487155,15	MCF-7	breast:
4	chr5:43481800..43486706-chr5:43511486..43517226,18	K562	blood:
5	chr5:43486040..43488414-chr5:43536255..43538183,2	MCF-7	breast:
6	chr5:43368792..43371190-chr5:43484228..43486800,2	K562	blood:
7	chr5:43482660..43486669-chr5:43512252..43517355,11	K562	blood:
8	chr5:43485676..43488495-chr5:43528382..43530215,2	K562	blood:

Variant related genes	Relation type
C5orf28	TF binding region
ENSG00000172244	Chromatin interaction
ENSG00000151882	Chromatin interaction
ENSG00000248240	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10036954	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10038608	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10042992	0.82[EUR][1000 genomes]
rs10045400	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10045455	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10058558	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10061165	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10074682	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10447144	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10462051	0.84[EUR][1000 genomes]
rs10473311	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10941640	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12332560	0.83[EUR][1000 genomes]
rs12651879	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs12659369	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12697452	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13185343	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13189004	0.83[EUR][1000 genomes]
rs13360902	0.83[ASN][1000 genomes]
rs1389868	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1389869	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1428640	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2013173	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2131999	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2132000	0.95[EUR][1000 genomes]
rs2172763	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34007811	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35710460	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35881272	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36013953	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3776423	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3806870	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073848	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4073850	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4073851	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4242099	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4308491	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4331909	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4367306	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4415083	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4467713	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4513704	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4541663	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4576155	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4866833	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs55641556	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56400900	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57547662	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57597020	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451692	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6451693	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6451695	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451696	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451698	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451703	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6451704	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6451706	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451712	0.84[EUR][1000 genomes]
rs67466542	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67581152	0.82[EUR][1000 genomes]
rs6858942	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6859344	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6861704	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6862102	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6865217	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6870018	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6870783	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6883661	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73100614	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs750582	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs750584	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7703662	0.80[AMR][1000 genomes]
rs7707976	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7708369	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7708443	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7717636	0.83[EUR][1000 genomes]
rs7724571	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7731091	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7734393	0.85[EUR][1000 genomes]
rs7735243	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292883	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9686159	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9687341	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9885467	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1802134	chr5:43476545-43492449	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43484800-43486600	Enhancers	Primary T cells fromperipheralblood	blood
2	chr5:43484800-43486800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:43484800-43487600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr5:43484800-43498000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:43484800-43502800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:43484800-43502800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:43484800-43502800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:43484800-43502800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:43484800-43505600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr5:43484800-43511000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:43484800-43514000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:43484800-43514600	Weak transcription	Ovary	ovary
13	chr5:43484800-43514800	Weak transcription	Spleen	Spleen
14	chr5:43485000-43486800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:43485000-43486800	Enhancers	HepG2	liver
16	chr5:43485000-43487400	Enhancers	Primary T cells from cord blood	blood
17	chr5:43485000-43488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr5:43485000-43488200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:43485000-43488400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr5:43485000-43497800	Weak transcription	Placenta	Placenta
21	chr5:43485000-43501000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:43485000-43501000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:43485000-43502600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:43485000-43503000	Weak transcription	NHEK	skin
25	chr5:43485000-43503400	Weak transcription	Brain Germinal Matrix	brain
26	chr5:43485000-43504600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:43485000-43505000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:43485000-43513400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:43485000-43513800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:43485000-43514200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:43485200-43486600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:43485200-43486800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:43485200-43487000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:43485200-43488000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr5:43485200-43488200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:43485200-43488200	Weak transcription	HUVEC	blood vessel
37	chr5:43485200-43488800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:43485200-43489200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:43485200-43489400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr5:43485200-43490200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:43485200-43502800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:43485200-43505400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr5:43485200-43505400	Weak transcription	Fetal Intestine Large	intestine
44	chr5:43485200-43505400	Weak transcription	Fetal Stomach	stomach
45	chr5:43485200-43506000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:43485200-43506000	Weak transcription	Adipose Nuclei	Adipose
47	chr5:43485200-43513200	Weak transcription	NHDF-Ad	bronchial
48	chr5:43485200-43513200	Weak transcription	NHLF	lung
49	chr5:43485200-43513400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr5:43485200-43513400	Weak transcription	Fetal Lung	lung

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