Variant report

Variant	rs56667969
Chromosome Location	chr4:75189991-75189992
allele	C/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	POLR2A	chr4:75176225-75192444	MCF10A-Er-Src	breast:	n/a	n/a
2	RCOR1	chr4:75189977-75190310	K562	blood:	n/a	n/a
3	POLR2A	chr4:75188985-75191022	MCF10A-Er-Src	breast:	n/a	n/a
4	RCOR1	chr4:75189981-75190449	K562	blood:	n/a	n/a
5	MAZ	chr4:75189982-75190016	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:75186018..75191874-chr4:75238287..75242590,7	MCF-7	breast:
2	chr4:75189693..75192750-chr4:75229705..75235376,6	K562	blood:
3	chr4:75188724..75190900-chr4:75238906..75240715,2	MCF-7	breast:
4	chr4:75189014..75191731-chr4:75230700..75232890,4	K562	blood:

Variant related genes	Relation type
ENSG00000265720	TF binding region
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10006685	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10011730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014791	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015148	0.90[ASN][1000 genomes]
rs1246576	0.95[ASN][1000 genomes]
rs1246583	0.95[ASN][1000 genomes]
rs1246589	0.95[ASN][1000 genomes]
rs1246592	0.95[ASN][1000 genomes]
rs1246593	0.95[ASN][1000 genomes]
rs1246595	0.95[ASN][1000 genomes]
rs1246596	0.95[ASN][1000 genomes]
rs1460004	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542468	0.95[ASN][1000 genomes]
rs16850833	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850864	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850866	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850885	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850889	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850892	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850898	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850899	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850918	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850929	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850939	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611754	0.95[ASN][1000 genomes]
rs28382340	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417935	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28423375	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28434222	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28462312	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588511	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28663170	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28721942	0.82[ASN][1000 genomes]
rs28788278	0.90[ASN][1000 genomes]
rs492042	0.95[ASN][1000 genomes]
rs572987	0.95[ASN][1000 genomes]
rs6821364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845763	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656041	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656313	0.90[ASN][1000 genomes]
rs7665228	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670644	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689369	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694828	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697394	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884572	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9884653	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9992624	0.95[ASN][1000 genomes]
rs9993008	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75186000-75192000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:75187000-75192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:75187600-75192400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:75187600-75192600	Weak transcription	NHEK	skin
5	chr4:75187600-75192800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:75187600-75192800	Weak transcription	HMEC	breast
7	chr4:75188000-75190400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr4:75189000-75190200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr4:75189000-75190200	Weak transcription	A549	lung
10	chr4:75189000-75190400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:75189200-75190400	Flanking Active TSS	K562	blood
12	chr4:75189200-75190600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:75189200-75190600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:75189600-75190200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr4:75189600-75190800	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:75189800-75190000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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