Variant report

Variant	rs6757057
Chromosome Location	chr2:56035338-56035339
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56033387..56036369-chr2:56176860..56179763,2	K562	blood:

Variant related genes	Relation type
ENSG00000272180	Chromatin interaction
ENSG00000202344	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11125607	0.84[ASN][1000 genomes]
rs11125608	0.84[ASN][1000 genomes]
rs12478566	0.91[ASN][1000 genomes]
rs1344732	0.96[ASN][1000 genomes]
rs1346781	0.96[ASN][1000 genomes]
rs1346783	0.98[ASN][1000 genomes]
rs1346787	0.84[ASN][1000 genomes]
rs1346790	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1367225	0.96[ASN][1000 genomes]
rs1367226	0.84[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs1430189	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430190	0.96[ASN][1000 genomes]
rs1430191	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1430203	0.85[ASN][1000 genomes]
rs1897114	0.88[ASN][1000 genomes]
rs1960050	0.93[ASN][1000 genomes]
rs1985160	0.96[ASN][1000 genomes]
rs1985162	0.96[ASN][1000 genomes]
rs2052933	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2115876	0.95[ASN][1000 genomes]
rs2115878	0.95[ASN][1000 genomes]
rs3791676	1.00[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs4352264	0.86[ASN][1000 genomes]
rs4672074	0.98[ASN][1000 genomes]
rs4672075	0.91[ASN][1000 genomes]
rs6545522	0.81[AMR][1000 genomes]
rs6545523	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6545526	0.91[ASN][1000 genomes]
rs6545527	0.84[ASN][1000 genomes]
rs6708796	0.95[ASN][1000 genomes]
rs6712017	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6714513	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733730	0.91[ASN][1000 genomes]
rs6743114	0.84[ASN][1000 genomes]
rs6749785	0.95[ASN][1000 genomes]
rs6751403	0.93[ASN][1000 genomes]
rs6753814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72618677	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs732132	0.85[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs7572523	0.95[ASN][1000 genomes]
rs7574127	0.86[ASN][1000 genomes]
rs7607070	0.83[ASN][1000 genomes]
rs7609520	0.91[ASN][1000 genomes]
rs934278	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56029600-56037000	Weak transcription	Hela-S3	cervix
2	chr2:56032000-56036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:56032000-56036800	Weak transcription	A549	lung
4	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:56032200-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:56032200-56036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:56032200-56036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:56033000-56037000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:56033200-56037000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:56033200-56037600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56033400-56037000	Weak transcription	Fetal Brain Female	brain
12	chr2:56033600-56037000	Weak transcription	Aorta	Aorta
13	chr2:56034800-56035600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:56035200-56035600	Enhancers	Adipose Nuclei	Adipose

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