Variant report

Variant	rs2530459
Chromosome Location	chr7:150954184-150954185
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	chr7:150948703..150950863-chr7:150952432..150955323,2	K562	blood:
3	chr7:150952243..150954405-chr7:150956858..150959573,2	K562	blood:
4	chr7:150949835..150952279-chr7:150953865..150957966,4	MCF-7	breast:
5	chr7:150954098..150959160-chr7:150959832..150962944,4	K562	blood:
6	chr7:150953242..150955142-chr7:150956991..150958505,2	K562	blood:
7	chr7:150954107..150956387-chr7:150957972..150959934,2	MCF-7	breast:

Variant related genes	Relation type
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	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs219230	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2530458	1.00[ASN][1000 genomes]
rs3789823	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236429	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236430	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4472433	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58125572	0.93[AMR][1000 genomes];0.95[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	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
3	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
4	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
5	nsv465216	chr7:150951819-150991795	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv609036	chr7:150951819-150991795	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2530459	ABCF2	Cis_1M	lymphoblastoid	RTeQTL
rs2530459	ABCF2	cis	Thyroid	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150950400-150973400	Weak transcription	Brain Substantia Nigra	brain
2	chr7:150950600-150955400	Weak transcription	Lung	lung
3	chr7:150950600-150955600	Weak transcription	Esophagus	oesophagus
4	chr7:150950600-150957200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:150950600-150957800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:150950600-150958400	Weak transcription	Right Atrium	heart
7	chr7:150950600-150961400	Weak transcription	Spleen	Spleen
8	chr7:150950600-150965200	Weak transcription	Brain Angular Gyrus	brain
9	chr7:150950600-150967600	Weak transcription	Pancreas	Pancrea
10	chr7:150951000-150965400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:150951000-150969800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:150951000-150970800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:150951600-150968000	Weak transcription	Brain Germinal Matrix	brain
14	chr7:150951800-150967600	Weak transcription	Fetal Brain Female	brain
15	chr7:150952000-150954400	Enhancers	Ovary	ovary
16	chr7:150952800-150958800	Weak transcription	Right Ventricle	heart
17	chr7:150953600-150954200	Enhancers	Brain Hippocampus Middle	brain
18	chr7:150953600-150954200	Enhancers	Fetal Heart	heart
19	chr7:150953600-150954200	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr7:150953600-150954400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:150953600-150954400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:150953600-150954400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr7:150953600-150954400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr7:150953800-150954200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr7:150954000-150954200	Bivalent Enhancer	Fetal Stomach	stomach
26	chr7:150954000-150966600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:150954000-150967200	Weak transcription	Brain Inferior Temporal Lobe	brain

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