Variant report

Variant	rs28386919
Chromosome Location	chr12:8771470-8771471
allele	C/T
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:22)

rs_ID	r²[population]
rs11046380	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11046393	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296100	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12300274	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12303273	1.00[ASN][1000 genomes]
rs12321209	0.80[AMR][1000 genomes]
rs12824576	1.00[ASN][1000 genomes]
rs12826733	1.00[ASN][1000 genomes]
rs34079958	1.00[ASN][1000 genomes]
rs34817631	1.00[ASN][1000 genomes]
rs34847713	0.88[AMR][1000 genomes]
rs35384062	1.00[ASN][1000 genomes]
rs56776129	1.00[ASN][1000 genomes]
rs57550858	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6487313	1.00[ASN][1000 genomes]
rs66552846	1.00[ASN][1000 genomes]
rs71447520	1.00[ASN][1000 genomes]
rs71447521	1.00[ASN][1000 genomes]
rs73242785	1.00[ASN][1000 genomes]
rs73242788	1.00[ASN][1000 genomes]
rs73242789	1.00[ASN][1000 genomes]
rs73244411	1.00[ASN][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	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1039504	chr12:8494944-8780137	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv557342	chr12:8599397-8774527	Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv933050	chr12:8602789-8775989	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv933555	chr12:8627165-8775989	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv933639	chr12:8627243-8775989	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8764200-8773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:8769400-8773400	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:8770400-8771800	Flanking Active TSS	Fetal Intestine Small	intestine
4	chr12:8770600-8771800	Weak transcription	Fetal Kidney	kidney
5	chr12:8770600-8772200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:8770600-8772400	Enhancers	Osteobl	bone
7	chr12:8770800-8772400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:8770800-8772400	Enhancers	HUVEC	blood vessel
9	chr12:8770800-8773400	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:8771000-8771600	Flanking Active TSS	Hela-S3	cervix
11	chr12:8771000-8771800	Active TSS	Fetal Intestine Large	intestine
12	chr12:8771000-8772400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:8771000-8772400	Enhancers	GM12878-XiMat	blood
14	chr12:8771000-8772800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr12:8771000-8772800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:8771200-8771600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr12:8771200-8772200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:8771200-8772400	Enhancers	Duodenum Mucosa	Duodenum
19	chr12:8771400-8772000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:8771400-8772000	Active TSS	A549	lung
21	chr12:8771400-8772400	Enhancers	HMEC	breast
22	chr12:8771400-8772600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:8771400-8772800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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