Variant report

Variant	rs2221065
Chromosome Location	chr3:111254393-111254394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1027496	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10934099	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12631939	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13061590	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs1391358	0.95[EUR][1000 genomes]
rs1391362	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1398748	0.82[JPT][hapmap]
rs16858229	0.82[CHB][hapmap]
rs1826960	0.81[ASN][1000 genomes]
rs1948625	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276873	0.82[CHB][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]
rs4682048	0.90[ASN][1000 genomes]
rs4682283	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6769311	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6769389	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6773012	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786777	0.81[ASN][1000 genomes]
rs6793230	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6805275	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7653347	0.82[CHB][hapmap];0.81[YRI][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv997756	chr3:111226058-111376585	Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv3946	chr3:111236035-111283038	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111253000-111254400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:111253000-111254600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:111253200-111254400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:111253200-111254400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:111253600-111254400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:111253600-111254600	Enhancers	Primary B cells from peripheral blood	blood
7	chr3:111253600-111257400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:111253800-111257200	Weak transcription	Hela-S3	cervix
9	chr3:111253800-111257200	Weak transcription	HMEC	breast
10	chr3:111253800-111257200	Weak transcription	NH-A	brain
11	chr3:111254000-111254400	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr3:111254000-111254600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:111254200-111257000	Weak transcription	Dnd41	blood
14	chr3:111254200-111257200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:111254200-111257200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:111254200-111257200	Weak transcription	HSMM	muscle
17	chr3:111254200-111257200	Weak transcription	Osteobl	bone
18	chr3:111254200-111257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:111254200-111257400	Weak transcription	HSMMtube	muscle
20	chr3:111254200-111257800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links