Variant report

Variant	rs17037055
Chromosome Location	chr2:48143149-48143150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48136733..48138949-chr2:48141998..48144158,2	K562	blood:
2	chr2:48131432..48136462-chr2:48139492..48145853,13	K562	blood:
3	chr2:48131983..48136130-chr2:48139678..48143503,7	K562	blood:
4	chr2:48132497..48135638-chr2:48140807..48143211,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10490303	1.00[CEU][hapmap]
rs10495947	1.00[YRI][hapmap]
rs10495948	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17036952	1.00[CEU][hapmap]
rs17037018	0.93[YRI][hapmap]
rs17037021	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17037040	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17037062	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17037064	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2134055	0.86[EUR][1000 genomes]
rs2881863	0.86[EUR][1000 genomes]
rs4381823	1.00[CEU][hapmap]
rs56682209	0.87[EUR][1000 genomes]
rs56881113	0.84[EUR][1000 genomes]
rs58057481	0.89[EUR][1000 genomes]
rs58552166	0.87[EUR][1000 genomes]
rs60118201	0.86[EUR][1000 genomes]
rs60303023	0.91[EUR][1000 genomes]
rs6704872	0.91[YRI][hapmap]
rs7560678	0.93[EUR][1000 genomes]
rs7587289	0.91[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48134800-48144800	Weak transcription	Aorta	Aorta
2	chr2:48135000-48144600	Weak transcription	Primary B cells from cord blood	blood
3	chr2:48142600-48143800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:48142800-48143800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:48143000-48143200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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