Variant report

Variant	rs17280755
Chromosome Location	chr12:86215958-86215959
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10506921	1.00[EUR][1000 genomes]
rs11831336	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11837152	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17279205	1.00[EUR][1000 genomes]
rs17345787	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17345849	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17346231	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4897829	0.89[EUR][1000 genomes]
rs61928899	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928912	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928914	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928916	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928920	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61928955	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930029	0.91[EUR][1000 genomes]
rs61930036	1.00[EUR][1000 genomes]
rs61930064	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930066	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930076	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61930139	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61930641	0.98[EUR][1000 genomes]
rs61930644	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73176549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73176583	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7397266	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9788152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054573	chr12:85658602-86235433	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1035600	chr12:85661373-86235433	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1052187	chr12:85954455-86278200	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv541560	chr12:85954455-86278200	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1049443	chr12:86185887-86272493	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a
7	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1036914	chr12:86201703-86272493	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86199800-86228200	Weak transcription	Left Ventricle	heart
2	chr12:86201800-86217000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:86201800-86222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:86202600-86217600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:86203800-86217400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:86208000-86216600	Weak transcription	Pancreas	Pancrea
7	chr12:86208800-86219600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:86214000-86216000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:86214200-86217000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:86214200-86217000	Weak transcription	Osteobl	bone
11	chr12:86214400-86216000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:86214400-86217000	Weak transcription	HMEC	breast
13	chr12:86214600-86217200	Weak transcription	NHEK	skin
14	chr12:86214800-86216600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:86215000-86216400	Enhancers	NH-A	brain
16	chr12:86215400-86216000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:86215400-86216200	Enhancers	HepG2	liver
18	chr12:86215400-86216400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr12:86215600-86216000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:86215600-86216200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:86215600-86216200	Enhancers	Liver	Liver
22	chr12:86215600-86216200	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:86215600-86216200	Enhancers	Fetal Intestine Small	intestine
24	chr12:86215600-86216200	Enhancers	Fetal Kidney	kidney
25	chr12:86215600-86217000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:86215800-86216200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:86215800-86216200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr12:86215800-86216200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:86215800-86216200	Enhancers	Fetal Intestine Large	intestine
30	chr12:86215800-86216200	Flanking Active TSS	Fetal Lung	lung
31	chr12:86215800-86216200	Flanking Active TSS	A549	lung
32	chr12:86215800-86216200	Flanking Active TSS	Hela-S3	cervix
33	chr12:86215800-86218200	Enhancers	HUVEC	blood vessel

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