Variant report

Variant	rs62140553
Chromosome Location	chr2:47163736-47163737
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47160863..47164193-chr2:47400437..47404755,4	K562	blood:
2	chr2:47142704..47145224-chr2:47163492..47166799,3	K562	blood:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10174894	0.80[ASN][1000 genomes]
rs11894319	0.80[ASN][1000 genomes]
rs13388612	0.84[ASN][1000 genomes]
rs1446499	0.84[ASN][1000 genomes]
rs1446500	0.84[ASN][1000 genomes]
rs17035884	0.82[AMR][1000 genomes]
rs2084192	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2289927	0.80[ASN][1000 genomes]
rs2289928	0.80[ASN][1000 genomes]
rs3087857	0.84[ASN][1000 genomes]
rs34581142	0.80[ASN][1000 genomes]
rs35433380	0.80[ASN][1000 genomes]
rs55872217	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs56213467	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs58589709	0.83[AMR][1000 genomes]
rs60088869	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60194846	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62136822	0.82[AMR][1000 genomes]
rs62136823	0.80[ASN][1000 genomes]
rs62136825	0.80[ASN][1000 genomes]
rs62136827	0.80[ASN][1000 genomes]
rs62140550	0.84[ASN][1000 genomes]
rs62140556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6544938	0.82[ASN][1000 genomes]
rs6544939	0.82[ASN][1000 genomes]
rs6706031	0.80[ASN][1000 genomes]
rs6715391	0.88[AMR][1000 genomes]
rs6715620	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6716381	0.84[ASN][1000 genomes]
rs6722440	0.80[ASN][1000 genomes]
rs6729120	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6729604	0.84[ASN][1000 genomes]
rs6733548	0.84[ASN][1000 genomes]
rs6743994	0.88[AMR][1000 genomes]
rs6755303	0.83[ASN][1000 genomes]
rs6758093	0.84[ASN][1000 genomes]
rs6758512	0.80[ASN][1000 genomes]
rs71423929	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73926966	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7575172	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7596198	0.88[AMR][1000 genomes]
rs7601491	0.84[ASN][1000 genomes]
rs8861	0.82[AMR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
2	chr2:47144600-47164600	Weak transcription	Spleen	Spleen
3	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
4	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
8	chr2:47153400-47164400	Weak transcription	Thymus	Thymus
9	chr2:47153800-47166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:47154000-47166400	Weak transcription	Hela-S3	cervix
11	chr2:47154400-47166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:47155200-47164400	Weak transcription	Fetal Thymus	thymus
13	chr2:47155800-47166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:47157200-47166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:47157400-47166600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr2:47160000-47167200	Weak transcription	Fetal Stomach	stomach
17	chr2:47160600-47166800	Weak transcription	GM12878-XiMat	blood
18	chr2:47161600-47166600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:47161600-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:47161600-47166600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:47161600-47166800	Weak transcription	Primary T cells from cord blood	blood
22	chr2:47162400-47166800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:47162800-47164600	Weak transcription	HepG2	liver
24	chr2:47163000-47164400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:47163000-47164800	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:47163400-47165000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:47163400-47165000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:47163600-47163800	Enhancers	Osteobl	bone

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