Variant report

Variant	rs7308910
Chromosome Location	chr12:46838242-46838243
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:46778999..46783871-chr12:46835055..46839297,6	MCF-7	breast:
2	chr12:46834177..46835701-chr12:46837215..46839178,2	K562	blood:
3	chr12:46835571..46842966-chr12:46847412..46853177,10	MCF-7	breast:
4	chr12:46762033..46769988-chr12:46831671..46842896,19	MCF-7	breast:
5	chr12:46831045..46834457-chr12:46835919..46840293,4	MCF-7	breast:
6	chr12:46832578..46835564-chr12:46837748..46840595,2	K562	blood:
7	chr12:46835538..46838564-chr12:46838793..46843578,4	MCF-7	breast:
8	chr12:46764260..46768417-chr12:46835704..46840651,11	MCF-7	breast:
9	chr12:46774369..46779108-chr12:46835870..46838402,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257261	Chromatin interaction
ENSG00000257496	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000258096	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	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12814341	0.82[EUR][1000 genomes]
rs12832425	0.82[EUR][1000 genomes]
rs34472481	1.00[EUR][1000 genomes]
rs4076248	0.94[EUR][1000 genomes]
rs4076484	0.94[EUR][1000 genomes]
rs4768121	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6582656	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7301001	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7487075	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[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	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:44 , 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	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:46831200-46843200	Weak transcription	Left Ventricle	heart
7	chr12:46833600-46840800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:46834000-46844000	Weak transcription	Esophagus	oesophagus
9	chr12:46834400-46846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:46835200-46838600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:46835200-46839600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:46835200-46839800	Enhancers	HUVEC	blood vessel
13	chr12:46835600-46840800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:46836600-46839600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:46836600-46840800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:46836600-46840800	Enhancers	HMEC	breast
17	chr12:46836800-46838400	Weak transcription	A549	lung
18	chr12:46836800-46838800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:46836800-46839000	Weak transcription	HSMM	muscle
20	chr12:46836800-46839600	Weak transcription	NHDF-Ad	bronchial
21	chr12:46836800-46840400	Weak transcription	NHLF	lung
22	chr12:46836800-46844000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:46836800-46844200	Weak transcription	NH-A	brain
24	chr12:46837000-46838800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:46837000-46838800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:46837000-46839400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:46837000-46840800	Enhancers	Liver	Liver
28	chr12:46837000-46841400	Enhancers	NHEK	skin
29	chr12:46837000-46844000	Weak transcription	Fetal Intestine Small	intestine
30	chr12:46837000-46844000	Weak transcription	Osteobl	bone
31	chr12:46837200-46839000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:46837200-46840800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:46837200-46841400	Enhancers	Hela-S3	cervix
34	chr12:46837400-46840800	Enhancers	HepG2	liver
35	chr12:46837400-46843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:46837400-46844000	Weak transcription	Gastric	stomach
37	chr12:46837600-46838400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr12:46837600-46839000	Weak transcription	Psoas Muscle	Psoas
39	chr12:46837600-46839800	Weak transcription	Pancreas	Pancrea
40	chr12:46837600-46844000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:46837800-46839000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr12:46837800-46840800	Enhancers	Fetal Kidney	kidney
43	chr12:46838000-46839000	Weak transcription	Small Intestine	intestine
44	chr12:46838200-46838600	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links