Variant report

Variant	rs73256263
Chromosome Location	chr12:10534678-10534679
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11832581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11834973	0.85[AMR][1000 genomes]
rs11836503	0.85[AMR][1000 genomes]
rs2061755	0.90[AFR][1000 genomes]
rs3983615	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs57563883	0.85[AMR][1000 genomes]
rs58737658	0.85[AMR][1000 genomes]
rs58837727	0.88[AFR][1000 genomes]
rs60077215	0.85[AMR][1000 genomes]
rs60106440	0.85[AMR][1000 genomes]
rs73256265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256289	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73256293	0.85[AMR][1000 genomes]
rs73258205	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7954052	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv557455	chr12:10508975-10560957	Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10518400-10537000	Weak transcription	Left Ventricle	heart
2	chr12:10519600-10534800	Weak transcription	Fetal Stomach	stomach
3	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:10523000-10536000	Weak transcription	Ovary	ovary
5	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:10527600-10538600	Weak transcription	Brain Hippocampus Middle	brain
7	chr12:10531200-10544400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:10533000-10534800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:10533000-10534800	Strong transcription	NHEK	skin
10	chr12:10533200-10534800	Genic enhancers	Hela-S3	cervix
11	chr12:10533200-10541400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:10533400-10534800	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
13	chr12:10533600-10538000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:10533600-10538600	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr12:10533800-10535800	Weak transcription	Primary T cells from cord blood	blood
16	chr12:10533800-10537800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:10533800-10538200	Weak transcription	Fetal Intestine Large	intestine
18	chr12:10533800-10539000	Weak transcription	Fetal Intestine Small	intestine
19	chr12:10533800-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:10534200-10535800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr12:10534400-10534800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
22	chr12:10534400-10534800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:10534400-10535000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:10534600-10534800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
25	chr12:10534600-10534800	Enhancers	Pancreas	Pancrea
26	chr12:10534600-10534800	Enhancers	Osteobl	bone
27	chr12:10534600-10535200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:10534600-10535200	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr12:10534600-10535400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr12:10534600-10544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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