Variant report

Variant	rs61990117
Chromosome Location	chr14:68070226-68070227
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	FOS	chr14:68069890-68070265	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:68069897-68070260	MCF10A-Er-Src	breast:	n/a	n/a
3	CEBPB	chr14:68069934-68070288	MCF-7	breast:	n/a	n/a
4	FOS	chr14:68069903-68070272	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr14:68069891-68070260	MCF10A-Er-Src	breast:	n/a	n/a
6	CEBPB	chr14:68069937-68070398	HepG2	liver:	n/a	n/a
7	JUND	chr14:68069910-68070292	HepG2	liver:	n/a	chr14:68070065-68070076
8	STAT3	chr14:68069945-68070266	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:68069930..68072024-chr14:68077530..68079318,2	MCF-7	breast:
2	chr14:68070149..68071743-chr14:68075491..68077430,2	K562	blood:
3	chr14:68067053..68068566-chr14:68070076..68072471,2	K562	blood:
4	chr14:68068683..68070494-chr14:68139357..68141644,2	MCF-7	breast:

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000100568	Chromatin interaction
ENSG00000259502	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10129995	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12588931	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs3742872	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3742875	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45474396	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899212	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990083	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990084	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61990086	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990087	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990110	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990111	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990112	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990113	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990114	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990115	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990116	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6573785	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146307	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72721044	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs749270	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8010574	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8011057	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68070400	Enhancers	Primary B cells from cord blood	blood
2	chr14:68067400-68070800	Enhancers	Primary B cells from peripheral blood	blood
3	chr14:68067400-68071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:68069600-68071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68069800-68070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:68069800-68070400	Enhancers	HepG2	liver
8	chr14:68069800-68070600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:68069800-68070600	Enhancers	Ovary	ovary
10	chr14:68070000-68070400	Enhancers	Esophagus	oesophagus
11	chr14:68070000-68070400	Enhancers	Fetal Kidney	kidney
12	chr14:68070200-68070400	Enhancers	Pancreas	Pancrea
13	chr14:68070200-68070600	Enhancers	GM12878-XiMat	blood

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