Variant report

Variant	rs3736060
Chromosome Location	chr12:10542515-10542516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12427017	0.80[ASN][1000 genomes]
rs12816829	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12819494	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12821887	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12824244	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12824247	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12825500	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12826560	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12827347	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12830618	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2253365	0.82[ASN][1000 genomes]
rs2294148	0.82[ASN][1000 genomes]
rs35968979	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71450040	0.85[EUR][1000 genomes]
rs71450043	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs71450045	0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72475442	0.82[ASN][1000 genomes]
rs728010	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs728011	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7955196	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7962112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7969985	0.82[ASN][1000 genomes]
rs7972757	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980470	0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
12	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv430461	chr12:10539815-10554033	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10519600-10547800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:10525400-10547200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10531200-10544400	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:10533800-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:10534600-10544600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:10534800-10544400	Weak transcription	NHEK	skin
7	chr12:10534800-10548800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:10536200-10542800	Active TSS	Primary T cells fromperipheralblood	blood
9	chr12:10537200-10542800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:10537400-10543000	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr12:10538400-10542800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr12:10538400-10544400	Weak transcription	Osteobl	bone
13	chr12:10538400-10544600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:10538400-10544800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:10538600-10544400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:10538800-10543200	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr12:10538800-10544400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:10539600-10542600	Active TSS	Primary B cells from cord blood	blood
19	chr12:10539600-10544600	Weak transcription	HSMM	muscle
20	chr12:10539800-10544400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:10540000-10544400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:10541400-10543200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:10541800-10543400	Enhancers	Hela-S3	cervix
24	chr12:10542000-10549200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:10542400-10542600	Active TSS	Primary T cells from cord blood	blood
26	chr12:10542400-10544400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr12:10542400-10544600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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