Variant report

Variant	rs57274239
Chromosome Location	chr4:74789027-74789028
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74528131..74529022-chr4:74788987..74789641,3	MCF-7	breast:
2	chr4:74788453..74789959-chr4:74902384..74905210,2	K562	blood:
3	chr4:74779846..74782803-chr4:74788960..74790766,2	K562	blood:
4	chr4:74528518..74529057-chr4:74788798..74789482,2	K562	blood:

Variant related genes	Relation type
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10007249	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10518117	0.89[EUR][1000 genomes]
rs11508014	0.83[EUR][1000 genomes]
rs12108606	0.93[EUR][1000 genomes]
rs13112134	0.83[ASN][1000 genomes]
rs13122604	0.83[ASN][1000 genomes]
rs13136948	0.82[ASN][1000 genomes]
rs1429637	0.89[EUR][1000 genomes]
rs1435521	0.80[ASN][1000 genomes]
rs149611	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1511815	0.93[EUR][1000 genomes]
rs16845091	0.89[EUR][1000 genomes]
rs16850160	0.89[EUR][1000 genomes]
rs16850178	0.89[EUR][1000 genomes]
rs1951233	0.86[EUR][1000 genomes]
rs1957069	0.89[EUR][1000 genomes]
rs2082822	0.83[ASN][1000 genomes]
rs2082823	0.83[ASN][1000 genomes]
rs2115695	0.82[ASN][1000 genomes]
rs2195543	0.89[EUR][1000 genomes]
rs2367427	0.89[EUR][1000 genomes]
rs352036	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs353028	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs353029	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs353031	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs353032	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs353034	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353039	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs353040	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4082827	0.89[EUR][1000 genomes]
rs4694654	0.82[ASN][1000 genomes]
rs4694655	0.82[ASN][1000 genomes]
rs499141	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs529312	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58324794	0.86[EUR][1000 genomes]
rs58463118	0.89[EUR][1000 genomes]
rs585778	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58610473	0.86[EUR][1000 genomes]
rs60775930	0.89[EUR][1000 genomes]
rs61412577	0.89[EUR][1000 genomes]
rs629315	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6446970	0.82[ASN][1000 genomes]
rs671253	0.89[EUR][1000 genomes]
rs6813952	0.81[EUR][1000 genomes]
rs6819566	0.83[ASN][1000 genomes]
rs6832583	0.83[ASN][1000 genomes]
rs7656335	0.89[EUR][1000 genomes]
rs7666671	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7671525	0.83[ASN][1000 genomes]
rs938094	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	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
4	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv966525	chr4:74786364-74795947	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74785800-74791600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74786000-74793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:74788000-74789200	Enhancers	HUVEC	blood vessel
4	chr4:74788000-74789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:74788200-74789200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:74788200-74789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:74788400-74789200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:74788400-74789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:74788400-74789200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:74788400-74789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:74788600-74789200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:74788600-74789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:74788600-74789200	Enhancers	NHEK	skin
14	chr4:74788600-74789400	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr4:74788800-74789200	Enhancers	Hela-S3	cervix
16	chr4:74788800-74789200	Enhancers	HSMM	muscle
17	chr4:74789000-74789200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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