Variant report

Variant	rs7953808
Chromosome Location	chr12:117578642-117578643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117577294..117579486-chr12:117626844..117629841,2	MCF-7	breast:
2	chr12:117575984..117579086-chr12:117579299..117582176,4	MCF-7	breast:
3	chr12:117578341..117580665-chr12:117585806..117587323,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10850774	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2088699	0.91[ASN][1000 genomes]
rs2279766	0.91[ASN][1000 genomes]
rs4492907	0.88[ASN][1000 genomes]
rs4766831	0.91[ASN][1000 genomes]
rs4767502	0.91[ASN][1000 genomes]
rs4767505	0.87[ASN][1000 genomes]
rs4767512	0.92[ASN][1000 genomes]
rs4767514	0.92[ASN][1000 genomes]
rs4767515	0.81[ASN][1000 genomes]
rs6490117	0.91[ASN][1000 genomes]
rs7297713	0.88[ASN][1000 genomes]
rs7298778	0.91[ASN][1000 genomes]
rs7313745	0.91[ASN][1000 genomes]
rs7957758	0.91[ASN][1000 genomes]
rs7959489	0.91[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active 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	6 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7953808	FBXO21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117559800-117582200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:117560000-117581000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117566400-117582200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:117566800-117582200	Weak transcription	Brain Substantia Nigra	brain
5	chr12:117566800-117583400	Weak transcription	Fetal Kidney	kidney
6	chr12:117568400-117582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:117568400-117582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:117568600-117578800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:117568600-117583200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:117568600-117588400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:117568800-117579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:117571800-117583400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:117572000-117582000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:117572200-117579400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:117572200-117580000	Weak transcription	Primary B cells from cord blood	blood
16	chr12:117572200-117580000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:117572200-117581200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:117572200-117581600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:117572200-117582200	Weak transcription	Aorta	Aorta
20	chr12:117572200-117586400	Weak transcription	NHDF-Ad	bronchial
21	chr12:117572200-117586800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr12:117572400-117580000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:117572400-117580600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:117572400-117581400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:117572400-117583800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr12:117572400-117584000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr12:117572400-117596000	Weak transcription	Fetal Brain Male	brain
28	chr12:117572600-117580800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:117572600-117580800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:117572600-117581200	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr12:117572800-117579200	Weak transcription	Primary T cells from cord blood	blood
32	chr12:117572800-117580600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:117572800-117581200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:117572800-117581800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:117573000-117579000	Weak transcription	Thymus	Thymus
36	chr12:117573000-117579400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:117573000-117581800	Weak transcription	Fetal Thymus	thymus
38	chr12:117573000-117588400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:117573200-117580000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:117573200-117580400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr12:117573200-117580600	Weak transcription	Dnd41	blood
42	chr12:117573200-117582000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:117573400-117581600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:117574000-117582400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:117574600-117583400	Weak transcription	HMEC	breast
46	chr12:117576000-117578800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:117576000-117579200	Weak transcription	Esophagus	oesophagus
48	chr12:117576400-117578800	Weak transcription	Fetal Brain Female	brain
49	chr12:117576400-117579200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:117577200-117579000	Weak transcription	Brain Germinal Matrix	brain

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