Variant report

Variant	rs1088467
Chromosome Location	chr12:63279663-63279664
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63278268..63280209-chr12:63326131..63327723,2	MCF-7	breast:
2	chr12:63277854..63280085-chr12:63280794..63282974,2	MCF-7	breast:
3	chr12:63279630..63281538-chr12:63328095..63330873,2	K562	blood:
4	chr12:63278653..63281020-chr12:63327180..63328937,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12099667	1.00[ASN][1000 genomes]
rs56654926	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs574678	1.00[ASN][1000 genomes]
rs619480	1.00[ASN][1000 genomes]
rs654228	1.00[AMR][1000 genomes];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:2 , 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

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:63268600-63280600	Weak transcription	Brain Anterior Caudate	brain
3	chr12:63271200-63280600	Weak transcription	Left Ventricle	heart
4	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
5	chr12:63271600-63294400	Weak transcription	Ovary	ovary
6	chr12:63271800-63280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:63274600-63281600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:63274800-63280600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:63274800-63284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:63275400-63287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:63275600-63280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:63276400-63286600	Weak transcription	Pancreas	Pancrea
13	chr12:63277000-63285600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:63277200-63284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:63277400-63285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:63277800-63280400	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:63278000-63280600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr12:63278600-63280000	Weak transcription	HepG2	liver
19	chr12:63279400-63280000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:63279400-63280600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:63279400-63286600	Weak transcription	Fetal Intestine Small	intestine
22	chr12:63279400-63289200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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