Variant report

Variant	rs12721362
Chromosome Location	chr12:48225742-48225743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48176978..48178764-chr12:48224362..48226122,2	K562	blood:
2	chr12:48112866..48115065-chr12:48225593..48227392,2	K562	blood:

Variant related genes	Relation type
ENSG00000257433	Chromatin interaction
ENSG00000268069	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11168256	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11168257	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11168258	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55913294	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7487602	0.81[AMR][1000 genomes]
rs7487637	0.81[AMR][1000 genomes]
rs7973956	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48214400-48226400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr12:48217000-48226200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr12:48218200-48225800	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr12:48218400-48225800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:48218600-48226400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:48218800-48226400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:48218800-48229000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:48219000-48228800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr12:48220000-48226200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:48220800-48226800	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:48221800-48226800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:48222200-48229800	Enhancers	Primary B cells from cord blood	blood
13	chr12:48223200-48226400	Weak transcription	HSMM	muscle
14	chr12:48223200-48228200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:48223200-48228600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr12:48223200-48229200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:48223400-48225800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:48223400-48225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:48223400-48226000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:48223400-48226000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:48223400-48228000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:48223400-48229800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:48223400-48232200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr12:48223400-48236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:48223400-48237000	Weak transcription	Colonic Mucosa	Colon
26	chr12:48223600-48225800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:48223600-48226600	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr12:48223600-48226800	Enhancers	K562	blood
29	chr12:48223600-48227200	Weak transcription	Lung	lung
30	chr12:48223600-48227400	Weak transcription	Placenta	Placenta
31	chr12:48223600-48228000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:48223600-48228200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr12:48223600-48228200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:48223600-48228200	Weak transcription	Fetal Intestine Small	intestine
35	chr12:48223600-48228800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:48223600-48228800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:48223600-48228800	Weak transcription	Fetal Heart	heart
38	chr12:48223600-48229400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:48223600-48229400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr12:48223600-48231200	Weak transcription	A549	lung
41	chr12:48223600-48231800	Weak transcription	Colon Smooth Muscle	Colon
42	chr12:48223600-48237000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:48223600-48238600	Weak transcription	Right Atrium	heart
44	chr12:48223600-48239800	Weak transcription	Gastric	stomach
45	chr12:48223800-48226000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr12:48223800-48227400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:48223800-48228800	Weak transcription	NHEK	skin
48	chr12:48224200-48225800	Weak transcription	Spleen	Spleen
49	chr12:48224200-48226000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:48224200-48226000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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