Variant report

Variant	rs1902147
Chromosome Location	chr5:119852553-119852554
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:119803768..119806455-chr5:119850808..119853040,2	K562	blood:
2	chr5:119803768..119806715-chr5:119850808..119853246,2	K562	blood:
3	chr5:119852123..119854010-chr5:120038446..120041236,2	K562	blood:
4	chr5:119851956..119854339-chr5:119862015..119863785,2	K562	blood:
5	chr5:119798174..119800652-chr5:119851053..119853705,2	K562	blood:
6	chr5:119851956..119853481-chr5:119862285..119864209,2	K562	blood:
7	chr5:119801016..119803100-chr5:119851238..119853983,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12523269	1.00[CHB][hapmap]
rs1404300	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1454982	0.92[ASN][1000 genomes]
rs17146672	0.84[ASN][1000 genomes]
rs17146705	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146710	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601208	1.00[JPT][hapmap]
rs2601210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2601211	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2604163	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2604165	0.92[ASN][1000 genomes]
rs2655067	1.00[JPT][hapmap]
rs2655069	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41357149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4895261	1.00[JPT][hapmap]
rs6595236	1.00[CHB][hapmap]
rs6883068	1.00[JPT][hapmap]
rs6892665	0.92[ASN][1000 genomes]
rs72786234	0.81[AMR][1000 genomes]
rs72786244	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72786259	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72786260	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786263	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788220	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788221	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788222	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788223	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788224	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72788225	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788245	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72788246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7710928	1.00[CHB][hapmap]
rs7733602	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119846400-119852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:119851400-119853400	Enhancers	NHDF-Ad	bronchial
5	chr5:119852200-119853600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:119852200-119853800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:119852200-119854000	Enhancers	NH-A	brain
8	chr5:119852200-119854600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr5:119852200-119854600	Enhancers	Osteobl	bone
10	chr5:119852200-119855000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:119852400-119852600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:119852400-119852800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:119852400-119852800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:119852400-119852800	Enhancers	Aorta	Aorta
15	chr5:119852400-119853200	Enhancers	HSMM	muscle
16	chr5:119852400-119853800	Enhancers	HSMMtube	muscle
17	chr5:119852400-119853800	Enhancers	NHLF	lung
18	chr5:119852400-119854600	Enhancers	K562	blood

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