Variant report

Variant	rs58212469
Chromosome Location	chr12:57629526-57629527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:57628324..57630081-chr12:57848570..57850762,2	K562	blood:
2	chr12:57520295..57521910-chr12:57627423..57630374,2	K562	blood:
3	chr12:57606805..57607594-chr12:57628764..57629987,3	K562	blood:
4	chr12:57628442..57630617-chr12:57881870..57884083,2	K562	blood:

Variant related genes	Relation type
ENSG00000123329	Chromatin interaction
ENSG00000139269	Chromatin interaction
ENSG00000166986	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4073818	1.00[AFR][1000 genomes]
rs57189472	0.95[AFR][1000 genomes]
rs57245995	0.90[AFR][1000 genomes]
rs57408658	0.90[AFR][1000 genomes]
rs57502749	0.90[AFR][1000 genomes]
rs58368506	0.85[AFR][1000 genomes]
rs59705555	0.86[AFR][1000 genomes]
rs60285827	1.00[AFR][1000 genomes]
rs60784549	1.00[AFR][1000 genomes]
rs61739642	1.00[AFR][1000 genomes]
rs74096014	1.00[AMR][1000 genomes]
rs7488040	0.90[AFR][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	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57624400-57630400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr12:57625000-57629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:57625200-57629600	Weak transcription	Right Atrium	heart
4	chr12:57625200-57631400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:57625400-57629600	Strong transcription	HMEC	breast
6	chr12:57625400-57630000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:57625800-57629800	Genic enhancers	NHEK	skin
8	chr12:57625800-57630400	Genic enhancers	NHLF	lung
9	chr12:57626000-57629600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:57626000-57630000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:57626800-57630400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:57627200-57629600	Genic enhancers	K562	blood
13	chr12:57627400-57630600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:57627600-57629600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:57627600-57629600	ZNF genes & repeats	Thymus	Thymus
16	chr12:57627600-57629800	Strong transcription	A549	lung
17	chr12:57627600-57630800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:57627800-57630200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr12:57628000-57630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:57628000-57630600	Enhancers	Primary B cells from cord blood	blood
21	chr12:57628000-57631000	Weak transcription	Brain Substantia Nigra	brain
22	chr12:57628200-57629600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:57628200-57629600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:57628200-57629600	Weak transcription	Fetal Kidney	kidney
25	chr12:57628200-57629800	Weak transcription	Brain Hippocampus Middle	brain
26	chr12:57628200-57631400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:57628200-57632400	Weak transcription	Aorta	Aorta
28	chr12:57628400-57629800	Weak transcription	Primary T cells from cord blood	blood
29	chr12:57628400-57630000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:57628400-57630400	Enhancers	NHDF-Ad	bronchial
31	chr12:57628600-57629600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:57628600-57629600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:57628600-57629600	Enhancers	Fetal Lung	lung
34	chr12:57628600-57629600	Enhancers	Osteobl	bone
35	chr12:57628600-57629800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr12:57628600-57630000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:57628600-57630600	Bivalent Enhancer	Fetal Intestine Small	intestine
38	chr12:57628600-57631600	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr12:57628600-57632600	Weak transcription	HSMMtube	muscle
40	chr12:57628600-57636200	Weak transcription	Hela-S3	cervix
41	chr12:57628800-57629600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr12:57628800-57629600	Flanking Active TSS	HepG2	liver
43	chr12:57628800-57629800	Enhancers	Primary B cells from peripheral blood	blood
44	chr12:57628800-57629800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:57628800-57629800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:57628800-57629800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr12:57628800-57630000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr12:57628800-57631000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr12:57628800-57631400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr12:57628800-57632400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links