Variant report

Variant	rs4472433
Chromosome Location	chr7:150951016-150951017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150949363..150951350-chr7:150953823..150956264,2	K562	blood:
2	chr7:150938571..150942838-chr7:150950941..150954111,4	MCF-7	breast:
3	chr7:150928662..150932139-chr7:150946772..150952684,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033100	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12668799	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219230	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2530458	1.00[ASN][1000 genomes]
rs2530459	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3789823	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236429	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236430	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58125572	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6958591	0.88[ASN][1000 genomes]
rs7786030	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
2	nsv889476	chr7:150729212-150951819	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	120 gene(s)	inside rSNPs	diseases
3	nsv609035	chr7:150896223-150955765	Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv889487	chr7:150922952-150988172	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
5	nsv889488	chr7:150926775-150955765	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
6	esv3341107	chr7:150949269-150951767	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4472433	ABCF2	Cis_1M	lymphoblastoid	RTeQTL
rs4472433	ABCF2	cis	Thyroid	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150950000-150951200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:150950000-150951200	Weak transcription	Left Ventricle	heart
3	chr7:150950000-150951800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:150950000-150952000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:150950000-150952800	Enhancers	Right Ventricle	heart
6	chr7:150950200-150951200	Enhancers	Fetal Lung	lung
7	chr7:150950200-150951400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:150950200-150952800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr7:150950200-150953600	Weak transcription	Brain Anterior Caudate	brain
10	chr7:150950200-150953600	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:150950400-150951200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr7:150950400-150952000	Weak transcription	Ovary	ovary
13	chr7:150950400-150952200	Enhancers	Fetal Brain Male	brain
14	chr7:150950400-150973400	Weak transcription	Brain Substantia Nigra	brain
15	chr7:150950600-150951200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr7:150950600-150951200	Enhancers	Stomach Smooth Muscle	stomach
17	chr7:150950600-150951400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:150950600-150951400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr7:150950600-150951600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:150950600-150951600	Enhancers	Brain Germinal Matrix	brain
21	chr7:150950600-150951800	Enhancers	Fetal Brain Female	brain
22	chr7:150950600-150952400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:150950600-150952600	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:150950600-150953600	Weak transcription	Gastric	stomach
25	chr7:150950600-150953800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr7:150950600-150955400	Weak transcription	Lung	lung
27	chr7:150950600-150955600	Weak transcription	Esophagus	oesophagus
28	chr7:150950600-150957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:150950600-150957800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr7:150950600-150958400	Weak transcription	Right Atrium	heart
31	chr7:150950600-150961400	Weak transcription	Spleen	Spleen
32	chr7:150950600-150965200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:150950600-150967600	Weak transcription	Pancreas	Pancrea
34	chr7:150950800-150951200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr7:150950800-150953600	Weak transcription	Fetal Heart	heart
36	chr7:150951000-150951200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:150951000-150951200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:150951000-150951200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:150951000-150965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr7:150951000-150969800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:150951000-150970800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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