Variant report

Variant	rs2712332
Chromosome Location	chr3:113549170-113549171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:113548993..113551007-chr3:113552942..113555704,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1025399	0.93[ASN][1000 genomes]
rs1469559	0.93[ASN][1000 genomes]
rs1897214	0.93[ASN][1000 genomes]
rs2052969	0.93[ASN][1000 genomes]
rs2247225	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712331	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712333	0.93[ASN][1000 genomes]
rs2712347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv482804	chr3:113432431-113581672	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv829678	chr3:113446177-113633053	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv877351	chr3:113450495-113637424	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
5	nsv1013746	chr3:113460162-113646657	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv432478	chr3:113492402-113614489	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv460822	chr3:113543081-113600970	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv591302	chr3:113543081-113600970	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113544200-113549400	Weak transcription	Stomach Mucosa	stomach
2	chr3:113546800-113550000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:113546800-113550000	Enhancers	Primary B cells from peripheral blood	blood
4	chr3:113546800-113550200	Flanking Active TSS	GM12878-XiMat	blood
5	chr3:113547200-113549200	Enhancers	Primary B cells from cord blood	blood
6	chr3:113548000-113549400	Enhancers	Primary hematopoietic stem cells	blood
7	chr3:113548200-113551200	Enhancers	HUVEC	blood vessel
8	chr3:113548600-113549200	Enhancers	Pancreas	Pancrea
9	chr3:113548600-113549400	Enhancers	NHLF	lung
10	chr3:113548600-113549600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:113548600-113550000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:113548600-113550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr3:113548600-113550000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:113548600-113550000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr3:113548600-113550200	Enhancers	NHEK	skin
16	chr3:113548600-113550400	Enhancers	HMEC	breast
17	chr3:113548600-113550600	Enhancers	Hela-S3	cervix
18	chr3:113548600-113550800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr3:113548600-113552600	Enhancers	HepG2	liver
20	chr3:113548800-113549400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr3:113548800-113549600	Enhancers	NH-A	brain
22	chr3:113548800-113549800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr3:113548800-113549800	Enhancers	HSMM	muscle
24	chr3:113548800-113550000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:113548800-113550000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:113548800-113550000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:113548800-113550200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr3:113548800-113550200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:113548800-113550600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr3:113548800-113551000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr3:113549000-113549400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr3:113549000-113549400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr3:113549000-113549400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:113549000-113549600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr3:113549000-113550000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:113549000-113550000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:113549000-113550000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:113549000-113550000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr3:113549000-113550000	Enhancers	Osteobl	bone
40	chr3:113549000-113550200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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