Variant report

Variant	rs1582998
Chromosome Location	chr5:15611504-15611505
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	CEBPB	chr5:15611010-15611606	A549	lung:	n/a	chr5:15611309-15611320
2	CEBPB	chr5:15611066-15611546	MCF-7	breast:	n/a	chr5:15611309-15611320
3	CEBPB	chr5:15611127-15611528	H1-hESC	embryonic stem cell:	n/a	chr5:15611309-15611320
4	CEBPB	chr5:15611124-15611505	IMR90	lung:	n/a	chr5:15611309-15611320

Variant related genes	Relation type
FBXL7	TF binding region
ENSG00000250250	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1025328	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs1025329	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10454921	0.91[CEU][hapmap]
rs10520817	0.83[CEU][hapmap]
rs10520818	0.83[CEU][hapmap]
rs12055284	0.94[YRI][hapmap]
rs12187510	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12189306	0.85[EUR][1000 genomes]
rs12189348	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12189375	0.81[CEU][hapmap]
rs12652729	1.00[CEU][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs12655307	0.91[CEU][hapmap]
rs12656824	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12659622	0.91[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs13165880	0.82[CHB][hapmap]
rs1429034	0.88[YRI][hapmap]
rs1549696	1.00[CEU][hapmap]
rs16903918	0.91[CEU][hapmap]
rs17523716	0.91[CEU][hapmap]
rs17523908	0.91[CEU][hapmap]
rs17523929	0.90[CEU][hapmap]
rs17524082	0.86[CEU][hapmap]
rs17601883	0.91[CEU][hapmap]
rs17602097	0.91[CEU][hapmap]
rs17602228	0.91[CEU][hapmap]
rs17602477	0.81[CEU][hapmap]
rs17703964	0.88[GIH][hapmap];0.89[MEX][hapmap]
rs17703976	0.91[CEU][hapmap];0.91[GIH][hapmap];0.89[MEX][hapmap];0.83[AMR][1000 genomes]
rs1835128	0.83[CHB][hapmap];0.82[ASN][1000 genomes]
rs1835129	0.87[CHB][hapmap];0.85[ASN][1000 genomes]
rs2914762	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2914763	0.84[ASN][1000 genomes]
rs2964265	0.83[YRI][hapmap]
rs4295390	0.82[CHB][hapmap]
rs4509020	0.91[CEU][hapmap]
rs4510585	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4510586	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.87[MKK][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4702087	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6877517	0.81[CEU][hapmap]
rs6879143	0.91[CEU][hapmap]
rs6891138	0.82[CHB][hapmap]
rs6892081	0.91[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7733676	0.91[CEU][hapmap]
rs7736101	0.89[YRI][hapmap]
rs891195	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs891196	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv830214	chr5:15589809-15791032	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3507774	chr5:15593461-15822407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv3507776	chr5:15593461-15822407	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv4732	chr5:15598325-15636520	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15585000-15630200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:15586000-15619800	Weak transcription	NHLF	lung
3	chr5:15588400-15612600	Weak transcription	NHDF-Ad	bronchial
4	chr5:15593400-15633400	Weak transcription	Fetal Lung	lung
5	chr5:15600600-15645400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:15602800-15620600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:15605200-15620000	Weak transcription	HSMM	muscle
8	chr5:15605200-15620800	Weak transcription	HSMMtube	muscle
9	chr5:15605400-15620600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:15605400-15621000	Weak transcription	Aorta	Aorta
11	chr5:15607000-15613600	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:15607400-15612800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:15607400-15614800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:15607400-15621400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:15607600-15612800	Weak transcription	Ovary	ovary
16	chr5:15608000-15621000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:15609000-15611600	Enhancers	Brain Hippocampus Middle	brain
18	chr5:15609600-15611600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:15609800-15620600	Weak transcription	Lung	lung
20	chr5:15610000-15612800	Weak transcription	Right Ventricle	heart
21	chr5:15610000-15627400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:15610400-15635200	Weak transcription	Fetal Stomach	stomach
23	chr5:15610600-15613400	Weak transcription	Brain Anterior Caudate	brain
24	chr5:15610800-15612200	Weak transcription	Fetal Heart	heart
25	chr5:15610800-15612800	Weak transcription	Brain Angular Gyrus	brain
26	chr5:15610800-15619800	Weak transcription	HUVEC	blood vessel
27	chr5:15611000-15613200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:15611200-15612800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:15611200-15621200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:15611400-15612200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:15611400-15612600	Weak transcription	Brain Substantia Nigra	brain
32	chr5:15611400-15612800	Weak transcription	Left Ventricle	heart

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