Variant report

Variant	rs682732
Chromosome Location	chr12:63274532-63274533
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63273431..63275241-chr12:63290276..63292669,2	MCF-7	breast:
2	chr12:63273482..63276105-chr12:63324885..63326810,2	MCF-7	breast:
3	chr12:63255844..63260433-chr12:63273659..63277990,4	MCF-7	breast:
4	chr12:63270778..63274570-chr12:63326968..63330473,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111110	Chromatin interaction
ENSG00000252660	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12823159	1.00[LWK][hapmap]
rs681224	1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs699575	1.00[GIH][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs682732	APOBEC3H	trans	lymphoblastoid	seeQTL

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
3	chr12:63260800-63275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:63261200-63275000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:63262400-63275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:63262400-63277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:63262800-63276000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63263400-63277200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:63267400-63277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
12	chr12:63268600-63280600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:63270600-63275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr12:63271200-63280600	Weak transcription	Left Ventricle	heart
15	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
16	chr12:63271600-63294400	Weak transcription	Ovary	ovary
17	chr12:63271800-63280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:63272400-63274800	Enhancers	Placenta	Placenta
19	chr12:63273000-63275000	Weak transcription	Fetal Intestine Small	intestine
20	chr12:63273200-63277800	Weak transcription	HepG2	liver
21	chr12:63274000-63274600	Enhancers	Brain Cingulate Gyrus	brain
22	chr12:63274200-63274600	Enhancers	Brain Angular Gyrus	brain
23	chr12:63274200-63274800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:63274200-63274800	Enhancers	Brain Hippocampus Middle	brain
25	chr12:63274200-63274800	Enhancers	Brain Substantia Nigra	brain
26	chr12:63274200-63275800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr12:63274400-63274800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:63274400-63274800	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr12:63274400-63275800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr12:63274400-63276000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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