Variant report

Variant	rs276075
Chromosome Location	chr12:59846743-59846744
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr12:59845979-59847016	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59846048..59848605-chr12:59989591..59991500,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-871P	TF binding region
ENSG00000118596	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10747845	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12813701	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17122669	0.81[CEU][hapmap]
rs17122673	0.90[CEU][hapmap]
rs183920	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs276001	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276002	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs276004	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs276029	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs276035	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs276037	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs276068	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs276070	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs276071	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35338034	0.81[ASN][1000 genomes]
rs416700	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs436800	0.80[ASN][1000 genomes]
rs4424707	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs447994	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4760277	0.92[ASN][1000 genomes]
rs4760284	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv735	chr12:59799232-59882716	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv826392	chr12:59805637-59895803	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv899129	chr12:59820966-59941423	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr12:59845400-59847600	Enhancers	Osteobl	bone
2	chr12:59845400-59847800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:59845400-59847800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:59845400-59847800	Enhancers	NHLF	lung
5	chr12:59845600-59847000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:59845600-59847600	Enhancers	HSMM	muscle
7	chr12:59846000-59846800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:59846000-59846800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:59846000-59846800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:59846000-59846800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:59846000-59846800	Enhancers	Hela-S3	cervix
12	chr12:59846000-59846800	Enhancers	HMEC	breast
13	chr12:59846000-59846800	Enhancers	HSMMtube	muscle
14	chr12:59846000-59847000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr12:59846000-59847000	Enhancers	NHEK	skin
16	chr12:59846000-59847600	Enhancers	Adipose Nuclei	Adipose
17	chr12:59846200-59846800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr12:59846400-59846800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:59846400-59846800	Enhancers	Fetal Heart	heart
20	chr12:59846400-59846800	Flanking Active TSS	NH-A	brain
21	chr12:59846400-59846800	Flanking Active TSS	NHDF-Ad	bronchial
22	chr12:59846400-59847000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:59846400-59847000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:59846400-59847000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:59846600-59847000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:59846600-59847000	Enhancers	Fetal Intestine Large	intestine

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