Variant report

Variant	rs12818291
Chromosome Location	chr12:47636538-47636539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47488511..47490915-chr12:47635886..47637743,2	K562	blood:
2	chr12:47635571..47638392-chr12:47641481..47644121,2	K562	blood:
3	chr12:47629611..47633140-chr12:47634388..47637587,5	K562	blood:
4	chr12:47630690..47632447-chr12:47635305..47636917,2	K562	blood:
5	chr12:47634533..47637116-chr12:47639762..47642703,2	K562	blood:

Variant related genes	Relation type
ENSG00000258181	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12823818	1.00[AFR][1000 genomes]
rs214653	1.00[AFR][1000 genomes]
rs214654	1.00[AFR][1000 genomes]
rs34778442	1.00[AFR][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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47618600-47638600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
3	chr12:47629200-47643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:47629400-47641200	Weak transcription	Aorta	Aorta
5	chr12:47630200-47638000	Weak transcription	Placenta	Placenta
6	chr12:47630200-47638400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:47630400-47644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:47630400-47653600	Weak transcription	Primary B cells from cord blood	blood
9	chr12:47631600-47643000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:47632000-47643000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:47632600-47644600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:47632600-47646000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:47633200-47641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:47633200-47653800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:47633400-47643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:47635600-47636600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:47635800-47636600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:47635800-47636600	Enhancers	Primary T cells from cord blood	blood
19	chr12:47635800-47636600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:47636000-47636600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:47636000-47636600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr12:47636000-47636600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:47636000-47636600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:47636200-47636600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:47636200-47636600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:47636200-47636600	Enhancers	NHEK	skin
27	chr12:47636200-47638200	Weak transcription	A549	lung
28	chr12:47636200-47653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:47636400-47638000	Weak transcription	K562	blood
30	chr12:47636400-47642600	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:47636400-47643000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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