Variant report

Variant	rs863880
Chromosome Location	chr5:14880212-14880213
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	chr5:14880103-14881139	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
2	CEBPB	chr5:14880145-14880333	HepG2	liver:	n/a	n/a
3	JUN	chr5:14880121-14880331	HepG2	liver:	n/a	chr5:14880259-14880272
4	CEBPB	chr5:14880083-14881155	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
5	CEBPB	chr5:14880115-14880761	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
6	FOS	chr5:14880210-14880302	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPD	chr5:14880110-14880578	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880527-14880538
8	CEBPB	chr5:14880127-14881193	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
9	CEBPB	chr5:14880202-14880904	K562	blood:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
10	CEBPB	chr5:14880164-14880873	MCF-7	breast:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
11	CEBPB	chr5:14879942-14881166	HepG2	liver:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
12	MAZ	chr5:14879749-14880747	IMR90	lung:	n/a	n/a
13	CEBPB	chr5:14879589-14881286	Hela-S3	cervix:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
14	EP300	chr5:14880023-14880390	HepG2	liver:	n/a	n/a
15	CEBPB	chr5:14880056-14881209	MCF-7	breast:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
16	EP300	chr5:14880152-14880497	HepG2	liver:	n/a	n/a
17	CEBPB	chr5:14880147-14880822	HCT-116	colon:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
18	CEBPB	chr5:14880079-14881172	IMR90	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
19	FOS	chr5:14880115-14880367	MCF10A-Er-Src	breast:	n/a	n/a
20	CEBPB	chr5:14880202-14880784	A549	lung:	n/a	chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880539 chr5:14880528-14880537 chr5:14880528-14880537 chr5:14880526-14880537
21	JUND	chr5:14880102-14880418	HepG2	liver:	n/a	n/a
22	FOS	chr5:14880192-14880283	MCF10A-Er-Src	breast:	n/a	n/a
23	RCOR1	chr5:14879885-14881236	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:14870615..14876771-chr5:14877137..14881397,9	MCF-7	breast:
2	chr5:14879517..14881326-chr5:14882980..14885197,2	MCF-7	breast:
3	chr5:14765139..14767276-chr5:14879416..14882042,3	MCF-7	breast:

Variant related genes	Relation type
HNRNPKP5	TF binding region
ENSG00000272057	Chromatin interaction
ENSG00000154122	Chromatin interaction
ENSG00000249928	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10065666	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10073421	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2921604	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2921605	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2934813	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2934814	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3006069	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs835150	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs835153	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs835154	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv2753381	chr5:14814900-14882800	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
4	esv2755533	chr5:14814900-14882800	Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	esv2755538	chr5:14814900-14927500	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv530221	chr5:14859687-15364470	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv969946	chr5:14867971-14880715	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	esv1833901	chr5:14871952-14884822	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs863880	ANKH	Cis_1M	lymphoblastoid	RTeQTL
rs863880	ANKH	cis	Whole Blood	GTEx

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14873000-14882000	Weak transcription	Psoas Muscle	Psoas
2	chr5:14873400-14880400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:14878000-14880600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:14879200-14881000	Enhancers	Fetal Intestine Small	intestine
5	chr5:14879400-14881000	Enhancers	Fetal Intestine Large	intestine
6	chr5:14879400-14881200	Enhancers	Hela-S3	cervix
7	chr5:14879400-14881400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:14879400-14881400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:14879400-14881400	Enhancers	HepG2	liver
10	chr5:14879600-14880400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:14879600-14881400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:14879600-14883400	Enhancers	HMEC	breast
13	chr5:14879800-14881000	Enhancers	Placenta Amnion	Placenta Amnion
14	chr5:14879800-14881200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:14879800-14881200	Enhancers	Osteobl	bone
16	chr5:14879800-14881400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:14880000-14881000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:14880000-14881200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:14880000-14881400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:14880200-14881000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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