Variant report

Variant	rs12303824
Chromosome Location	chr12:46846705-46846706
allele	A/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: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	chr12:46846174..46847804-chr12:46851109..46853712,2	K562	blood:
2	chr12:46844776..46847490-chr12:46885701..46888274,3	MCF-7	breast:
3	chr12:46765422..46767944-chr12:46845143..46847052,2	K562	blood:
4	chr12:46751021..46753998-chr12:46846129..46848117,2	K562	blood:
5	chr12:46844018..46846962-chr12:46848048..46851671,5	MCF-7	breast:
6	chr12:46775191..46782074-chr12:46843960..46851522,20	MCF-7	breast:
7	chr12:46845917..46847463-chr12:46900708..46902756,2	MCF-7	breast:
8	chr12:46764643..46767852-chr12:46844280..46846838,3	MCF-7	breast:

No data

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

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

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

rs_ID	r²[population]
rs10785631	0.81[EUR][1000 genomes]
rs10880975	0.81[EUR][1000 genomes]
rs10880976	0.81[EUR][1000 genomes]
rs10880977	0.81[EUR][1000 genomes]
rs11183485	0.80[EUR][1000 genomes]
rs11183489	0.80[EUR][1000 genomes]
rs11183497	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11183507	0.81[EUR][1000 genomes]
rs11504523	0.81[EUR][1000 genomes]
rs11831177	0.81[EUR][1000 genomes]
rs12305921	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12307205	0.80[EUR][1000 genomes]
rs12580121	0.92[EUR][1000 genomes]
rs57439008	0.81[EUR][1000 genomes]
rs59521025	0.81[EUR][1000 genomes]
rs6582666	0.81[EUR][1000 genomes]
rs7295471	0.81[EUR][1000 genomes]
rs73290364	0.84[EUR][1000 genomes]
rs74085431	0.81[EUR][1000 genomes]
rs9783500	0.81[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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46821600-46848600	Weak transcription	Primary B cells from cord blood	blood
2	chr12:46828000-46856000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:46840800-46847000	Enhancers	HUVEC	blood vessel
4	chr12:46843200-46850600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46843800-46848000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr12:46843800-46850400	Enhancers	HMEC	breast
7	chr12:46843800-46850800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:46844000-46847600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:46844200-46848000	Enhancers	HSMM	muscle
10	chr12:46844200-46849600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:46844400-46847600	Enhancers	K562	blood
12	chr12:46844400-46848600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:46844400-46848600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:46844400-46848600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:46844400-46848600	Weak transcription	Placenta	Placenta
16	chr12:46844400-46848600	Weak transcription	Gastric	stomach
17	chr12:46844400-46849600	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:46844400-46849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:46844400-46849800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:46844400-46853200	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:46844600-46846800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:46844600-46846800	Weak transcription	Pancreas	Pancrea
23	chr12:46844600-46847000	Weak transcription	HSMMtube	muscle
24	chr12:46844600-46848000	Enhancers	Hela-S3	cervix
25	chr12:46844600-46848400	Weak transcription	Dnd41	blood
26	chr12:46844600-46848600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr12:46844600-46848600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr12:46844600-46848600	Weak transcription	Fetal Thymus	thymus
29	chr12:46844600-46848800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:46844600-46849600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:46844600-46849600	Weak transcription	Fetal Lung	lung
32	chr12:46844600-46849800	Weak transcription	Adipose Nuclei	Adipose
33	chr12:46844600-46849800	Weak transcription	Fetal Stomach	stomach
34	chr12:46844600-46849800	Weak transcription	NH-A	brain
35	chr12:46844600-46849800	Weak transcription	Osteobl	bone
36	chr12:46844600-46851800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr12:46844600-46852000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:46844600-46852200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:46844600-46852400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:46844600-46853000	Weak transcription	Brain Substantia Nigra	brain
41	chr12:46844600-46853200	Weak transcription	Left Ventricle	heart
42	chr12:46844600-46854000	Weak transcription	Fetal Intestine Small	intestine
43	chr12:46844600-46854600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:46844600-46854800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:46844600-46855200	Weak transcription	Right Ventricle	heart
46	chr12:46844600-46866000	Weak transcription	Fetal Intestine Large	intestine
47	chr12:46844600-46886000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:46844800-46848400	Weak transcription	Primary T cells from cord blood	blood
49	chr12:46844800-46848400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:46844800-46848600	Weak transcription	Primary monocytes fromperipheralblood	blood

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