Variant report

Variant	rs4076248
Chromosome Location	chr12:46833605-46833606
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46832578..46835564-chr12:46837748..46840595,2	K562	blood:
2	chr12:46832724..46834258-chr12:46883859..46885941,2	MCF-7	breast:
3	chr12:46762033..46769988-chr12:46831671..46842896,19	MCF-7	breast:
4	chr12:46760616..46768014-chr12:46824033..46835241,16	K562	blood:
5	chr12:46831045..46834457-chr12:46835919..46840293,4	MCF-7	breast:
6	chr12:46831996..46834335-chr12:46842216..46844233,3	MCF-7	breast:
7	chr12:46831691..46833742-chr12:47051403..47054145,2	K562	blood:
8	chr12:46764063..46766992-chr12:46830927..46834019,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000134294	Chromatin interaction
ENSG00000258096	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10785630	0.80[ASW][hapmap];0.84[CEU][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];0.82[YRI][hapmap]
rs10880962	0.85[CEU][hapmap]
rs10880966	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs11183468	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12813763	0.92[CEU][hapmap];0.93[GIH][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs12814298	0.81[EUR][1000 genomes]
rs12814341	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs12824716	0.82[CHB][hapmap]
rs12832425	0.84[EUR][1000 genomes]
rs2279559	0.91[ASW][hapmap];0.85[CEU][hapmap];0.81[CHB][hapmap];0.98[CHD][hapmap];0.85[JPT][hapmap]
rs2408497	0.88[CEU][hapmap];0.82[EUR][1000 genomes]
rs2897968	0.84[CEU][hapmap]
rs34472481	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4076484	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4768121	0.84[EUR][1000 genomes]
rs6582656	1.00[CEU][hapmap];0.98[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7301001	0.84[EUR][1000 genomes]
rs7308910	0.94[EUR][1000 genomes]
rs7487075	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7976280	0.92[CEU][hapmap];0.95[GIH][hapmap];0.89[TSI][hapmap];0.82[EUR][1000 genomes]
rs7979418	0.88[CEU][hapmap]

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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46825400-46844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:46825600-46843800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:46826400-46836000	Weak transcription	NH-A	brain
5	chr12:46826400-46839200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:46826600-46836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:46826800-46836000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:46828000-46835800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:46830600-46834800	Enhancers	HUVEC	blood vessel
11	chr12:46831200-46833800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:46831200-46838200	Weak transcription	K562	blood
13	chr12:46831200-46843200	Weak transcription	Left Ventricle	heart
14	chr12:46831600-46833800	Weak transcription	A549	lung
15	chr12:46831600-46836000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:46832600-46834600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:46832600-46834600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:46832600-46836000	Enhancers	NHEK	skin
19	chr12:46832600-46836200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:46832800-46837200	Weak transcription	Pancreas	Pancrea
21	chr12:46832800-46837400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:46833600-46834000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr12:46833600-46834000	Flanking Active TSS	Hela-S3	cervix
24	chr12:46833600-46834400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:46833600-46834400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:46833600-46834400	Enhancers	HMEC	breast
27	chr12:46833600-46834400	Enhancers	NHDF-Ad	bronchial
28	chr12:46833600-46834400	Enhancers	Osteobl	bone
29	chr12:46833600-46834600	Enhancers	NHLF	lung
30	chr12:46833600-46840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links