Variant report

Variant	rs654228
Chromosome Location	chr12:63282342-63282343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63280356..63282421-chr12:63284387..63287315,2	K562	blood:
2	chr12:63262389..63265887-chr12:63279810..63282418,3	MCF-7	breast:
3	chr12:63276390..63278023-chr12:63282262..63284033,2	K562	blood:
4	chr12:63262984..63265194-chr12:63280872..63282464,2	MCF-7	breast:
5	chr12:63280556..63282421-chr12:63326654..63329622,2	MCF-7	breast:
6	chr12:63277854..63280085-chr12:63280794..63282974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1088467	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12099667	1.00[ASN][1000 genomes]
rs56654926	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs574678	1.00[ASN][1000 genomes]
rs619480	1.00[ASN][1000 genomes]
rs668823	1.00[ASN][1000 genomes]
rs680680	1.00[ASN][1000 genomes]
rs681594	1.00[ASN][1000 genomes]
rs682414	1.00[ASN][1000 genomes]
rs682886	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 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	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
3	chr12:63271600-63294400	Weak transcription	Ovary	ovary
4	chr12:63274800-63284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:63275400-63287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:63276400-63286600	Weak transcription	Pancreas	Pancrea
7	chr12:63277000-63285600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:63277200-63284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63277400-63285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:63279400-63286600	Weak transcription	Fetal Intestine Small	intestine
11	chr12:63279400-63289200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:63280400-63282400	Enhancers	Brain Hippocampus Middle	brain
13	chr12:63280600-63283400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:63280600-63284200	Enhancers	Brain Substantia Nigra	brain
15	chr12:63281000-63282400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:63281000-63282600	Weak transcription	Brain Anterior Caudate	brain
17	chr12:63281000-63293000	Weak transcription	Left Ventricle	heart
18	chr12:63281200-63285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:63281200-63293600	Weak transcription	Gastric	stomach
20	chr12:63281400-63286000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:63281600-63283000	Enhancers	Brain Angular Gyrus	brain
22	chr12:63281800-63285200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:63282000-63283000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:63282000-63285000	Enhancers	HepG2	liver
25	chr12:63282000-63285600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:63282200-63283000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:63282200-63295400	Weak transcription	Lung	lung

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