Variant report

Variant	rs7720064
Chromosome Location	chr5:111491473-111491474
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	FOSL2	chr5:111491008-111491488	SK-N-SH	brain:	n/a	n/a
2	GATA3	chr5:111490916-111491476	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr5:111490898-111491477	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111489518..111492589-chr5:111495084..111497282,3	K562	blood:
2	chr5:111490091..111493742-chr5:111495275..111498623,5	MCF-7	breast:

Variant related genes	Relation type
EPB41L4A-AS1	TF binding region
ENSG00000238363	Chromatin interaction
ENSG00000224032	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17134155	0.89[CEU][hapmap];0.88[EUR][1000 genomes]
rs17265886	0.95[CEU][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17266115	1.00[ASN][1000 genomes]
rs17266727	0.87[ASN][1000 genomes]
rs17266771	0.87[ASN][1000 genomes]
rs1975014	0.87[ASN][1000 genomes]
rs2290990	0.90[CEU][hapmap];0.97[EUR][1000 genomes]
rs2900060	0.93[EUR][1000 genomes]
rs55812441	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158171	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61482608	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787781	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73787784	1.00[ASN][1000 genomes]
rs7449256	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7700705	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711555	0.90[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713216	0.89[CEU][hapmap];0.96[EUR][1000 genomes]
rs7720344	0.95[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7730334	1.00[ASN][1000 genomes]
rs7730625	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs7731129	1.00[ASN][1000 genomes]
rs919243	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111489000-111496000	Weak transcription	Gastric	stomach
2	chr5:111490800-111491600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:111491200-111496000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:111491200-111496200	Weak transcription	Aorta	Aorta
5	chr5:111491400-111494600	Weak transcription	NHDF-Ad	bronchial
6	chr5:111491400-111495000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:111491400-111495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:111491400-111496000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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