Variant report

Variant	rs34472481
Chromosome Location	chr12:46836348-46836349
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46831513..46833080-chr12:46836002..46838071,2	MCF-7	breast:
2	chr12:46778999..46783871-chr12:46835055..46839297,6	MCF-7	breast:
3	chr12:46781028..46783722-chr12:46834423..46837382,2	K562	blood:
4	chr12:46835195..46837772-chr12:46901174..46903724,2	MCF-7	breast:
5	chr12:46835571..46842966-chr12:46847412..46853177,10	MCF-7	breast:
6	chr12:46776052..46777852-chr12:46835550..46837767,2	MCF-7	breast:
7	chr12:46762033..46769988-chr12:46831671..46842896,19	MCF-7	breast:
8	chr12:46831045..46834457-chr12:46835919..46840293,4	MCF-7	breast:
9	chr12:46835538..46838564-chr12:46838793..46843578,4	MCF-7	breast:
10	chr12:46764438..46766456-chr12:46834331..46836982,2	K562	blood:
11	chr12:46764260..46768417-chr12:46835704..46840651,11	MCF-7	breast:
12	chr12:46774369..46779108-chr12:46835870..46838402,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258096	Chromatin interaction
ENSG00000257261	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000257496	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11183468	0.87[EUR][1000 genomes]
rs12813763	0.82[EUR][1000 genomes]
rs12814298	0.85[EUR][1000 genomes]
rs12814341	0.82[EUR][1000 genomes]
rs12832425	0.82[EUR][1000 genomes]
rs4076248	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4076484	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4768121	0.82[EUR][1000 genomes]
rs6582656	0.98[EUR][1000 genomes]
rs7301001	0.82[EUR][1000 genomes]
rs7308910	1.00[EUR][1000 genomes]
rs7487075	0.93[EUR][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	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:41 , 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	chr12:46826400-46839200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:46826600-46836400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:46831200-46838200	Weak transcription	K562	blood
8	chr12:46831200-46843200	Weak transcription	Left Ventricle	heart
9	chr12:46832800-46837200	Weak transcription	Pancreas	Pancrea
10	chr12:46832800-46837400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:46833600-46840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:46834000-46844000	Weak transcription	Esophagus	oesophagus
13	chr12:46834400-46837200	Weak transcription	Psoas Muscle	Psoas
14	chr12:46834400-46846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:46835200-46838600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr12:46835200-46839600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr12:46835200-46839800	Enhancers	HUVEC	blood vessel
18	chr12:46835600-46836800	Enhancers	NHLF	lung
19	chr12:46835600-46840800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr12:46835800-46836800	Enhancers	HSMM	muscle
21	chr12:46835800-46837000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:46835800-46837000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:46835800-46837200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:46835800-46837800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:46836000-46836400	Enhancers	HepG2	liver
26	chr12:46836000-46836600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:46836000-46836600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:46836000-46836800	Enhancers	A549	lung
29	chr12:46836000-46836800	Enhancers	NH-A	brain
30	chr12:46836000-46836800	Enhancers	NHDF-Ad	bronchial
31	chr12:46836000-46837000	Enhancers	Fetal Intestine Small	intestine
32	chr12:46836000-46837000	Flanking Active TSS	NHEK	skin
33	chr12:46836000-46837000	Enhancers	Osteobl	bone
34	chr12:46836000-46837200	Flanking Active TSS	Hela-S3	cervix
35	chr12:46836200-46836600	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:46836200-46836600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:46836200-46836600	Flanking Active TSS	HMEC	breast
38	chr12:46836200-46836800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:46836200-46836800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:46836200-46837600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:46836200-46837600	Enhancers	Skeletal Muscle Male	skeletal muscle

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