Variant report

Variant	rs1296567
Chromosome Location	chr12:76256989-76256990
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76255703..76259339-chr12:76260469..76263869,5	K562	blood:
2	chr12:76248670..76251814-chr12:76255038..76258273,3	MCF-7	breast:
3	chr12:76256774..76259339-chr12:76260921..76263077,2	K562	blood:
4	chr12:76256706..76258794-chr12:76425035..76426713,2	MCF-7	breast:
5	chr12:76256606..76259447-chr12:76419252..76422362,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139289	Chromatin interaction
ENSG00000257839	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1275566	1.00[YRI][hapmap]
rs1275591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275592	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1275598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1275607	0.87[AMR][1000 genomes]
rs1275611	0.84[YRI][hapmap]
rs1275622	0.84[YRI][hapmap]

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	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76250600-76262000	Weak transcription	Fetal Muscle Leg	muscle
2	chr12:76252800-76270400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:76255400-76259600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:76255600-76257600	Enhancers	NHLF	lung
5	chr12:76255600-76258200	Enhancers	Hela-S3	cervix
6	chr12:76255600-76259200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:76255800-76258600	Enhancers	NHDF-Ad	bronchial
8	chr12:76255800-76259200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:76255800-76261200	Enhancers	HMEC	breast
10	chr12:76256000-76258800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:76256000-76259200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:76256000-76260000	Enhancers	HUVEC	blood vessel
13	chr12:76256200-76257000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:76256200-76257400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:76256200-76257600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:76256200-76257800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:76256400-76257000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:76256400-76257000	Enhancers	HSMM	muscle
19	chr12:76256400-76257600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:76256400-76257600	Enhancers	Small Intestine	intestine
21	chr12:76256400-76257600	Enhancers	Stomach Mucosa	stomach
22	chr12:76256400-76257600	Enhancers	Osteobl	bone
23	chr12:76256400-76257800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:76256400-76257800	Flanking Active TSS	A549	lung
25	chr12:76256400-76257800	Enhancers	HepG2	liver
26	chr12:76256400-76257800	Enhancers	NH-A	brain
27	chr12:76256600-76257800	Flanking Active TSS	NHEK	skin
28	chr12:76256800-76257600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:76256800-76258200	Enhancers	Fetal Intestine Small	intestine

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