Variant report

Variant	rs1008152
Chromosome Location	chr2:172912090-172912091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172911399..172913242-chr2:172927772..172930159,2	K562	blood:
2	chr2:172805225..172806853-chr2:172911394..172913520,2	K562	blood:
3	chr2:172909379..172916271-chr2:172947539..172952263,13	K562	blood:
4	chr2:172894190..172896473-chr2:172910929..172913288,2	K562	blood:
5	chr2:172911212..172913559-chr2:172957702..172960003,2	MCF-7	breast:
6	chr2:172897089..172900010-chr2:172909839..172912586,2	K562	blood:
7	chr2:172910524..172912386-chr2:172915560..172917116,2	K562	blood:
8	chr2:172908370..172912601-chr2:172912982..172915334,3	K562	blood:
9	chr2:172909670..172912609-chr2:172916665..172919120,2	MCF-7	breast:
10	chr2:172901732..172906441-chr2:172911766..172917938,8	K562	blood:
11	chr2:172909159..172912131-chr2:172917033..172919851,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17428174	0.88[AMR][1000 genomes]
rs17500114	1.00[AMR][1000 genomes]
rs55791993	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55863868	0.94[AMR][1000 genomes]
rs56218609	0.86[AMR][1000 genomes]
rs62183804	0.85[AMR][1000 genomes]
rs62183808	0.90[AMR][1000 genomes]
rs62183809	0.87[AMR][1000 genomes]
rs62183811	0.83[AMR][1000 genomes]
rs62183817	0.89[AMR][1000 genomes]
rs62183828	0.83[AFR][1000 genomes]
rs62183851	0.89[AMR][1000 genomes]
rs62183852	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183853	0.89[AMR][1000 genomes]
rs6704590	0.88[AMR][1000 genomes]
rs6737876	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6749895	0.86[AMR][1000 genomes]
rs6761111	0.92[AMR][1000 genomes]
rs72892835	0.96[AMR][1000 genomes]
rs72892859	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs788161	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs788163	0.85[EUR][1000 genomes]
rs788164	0.95[EUR][1000 genomes]
rs788168	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv583629	chr2:172907898-172914293	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	4 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	chr2:172907800-172916000	Weak transcription	Fetal Kidney	kidney
2	chr2:172911000-172912200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:172911000-172930000	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172911200-172912800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:172911200-172915600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:172911200-172947200	Weak transcription	HSMM	muscle
7	chr2:172911400-172914400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:172911400-172915200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:172911400-172916400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:172911400-172916600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:172911400-172916800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:172911600-172912200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:172911600-172913400	Enhancers	HepG2	liver
14	chr2:172911800-172913400	Enhancers	K562	blood

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