Variant report

Variant	rs566255252
Chromosome Location	chr12:50792977-50792978
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50677350..50679861-chr12:50792501..50795030,2	K562	blood:
2	chr12:50495184..50497904-chr12:50792002..50794811,2	K562	blood:
3	chr12:50611453..50613308-chr12:50792675..50795177,2	K562	blood:
4	chr12:50792642..50794335-chr12:50796337..50798839,2	MCF-7	breast:
5	chr12:50639732..50644182-chr12:50792343..50795361,4	K562	blood:
6	chr12:50758172..50761780-chr12:50791230..50796188,4	K562	blood:

Variant related genes	Relation type
ENSG00000244266	Chromatin interaction
ENSG00000203433	Chromatin interaction
ENSG00000167588	Chromatin interaction
ENSG00000257531	Chromatin interaction
ENSG00000050405	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv899076	chr12:50770291-50869589	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
8	nsv469376	chr12:50792846-50856613	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
9	nsv558841	chr12:50792846-50856613	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
10	nsv470291	chr12:50792846-50858820	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50781800-50794000	Weak transcription	Fetal Kidney	kidney
2	chr12:50782000-50794000	Weak transcription	Fetal Heart	heart
3	chr12:50782800-50794200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:50785000-50794000	Weak transcription	HUVEC	blood vessel
5	chr12:50790200-50794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:50790400-50793800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:50790600-50793600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:50790600-50793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:50790600-50794000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:50790600-50794200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr12:50790800-50793800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:50790800-50793800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:50790800-50793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:50790800-50793800	Weak transcription	NHEK	skin
15	chr12:50790800-50794000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:50790800-50794000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:50790800-50794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:50791000-50793800	Weak transcription	Osteobl	bone
19	chr12:50791000-50794000	Weak transcription	A549	lung
20	chr12:50791000-50794000	Weak transcription	NHDF-Ad	bronchial
21	chr12:50791200-50793800	Weak transcription	Hela-S3	cervix
22	chr12:50791200-50794000	Weak transcription	HMEC	breast
23	chr12:50791400-50793800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:50791400-50793800	Weak transcription	HepG2	liver
25	chr12:50791400-50794000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:50791400-50794200	Weak transcription	Placenta	Placenta

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