Variant report

Variant	rs45444496
Chromosome Location	chr15:78474787-78474788
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78474102..78476021-chr7:20368529..20371433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105855	Chromatin interaction
ENSG00000271133	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11856106	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17479031	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17479135	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17850484	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59398201	1.00[AFR][1000 genomes]
rs62009331	0.90[ASN][1000 genomes]
rs62009336	1.00[ASN][1000 genomes]
rs62009341	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62009344	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62009346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62009347	1.00[AFR][1000 genomes]
rs62009348	0.94[AFR][1000 genomes]
rs62011375	1.00[AFR][1000 genomes]
rs8026525	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv948437	chr15:78435527-78504662	Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv904430	chr15:78466127-78507316	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs45444496	CIB2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78447000-78475200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78464800-78475000	Weak transcription	HMEC	breast
3	chr15:78465200-78475000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:78465200-78475600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr15:78465400-78474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:78465400-78475200	Weak transcription	NHEK	skin
7	chr15:78467200-78477200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:78467400-78474800	Weak transcription	Fetal Brain Female	brain
9	chr15:78467400-78475400	Enhancers	Fetal Thymus	thymus
10	chr15:78470200-78477000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:78470200-78486600	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:78470400-78493800	Weak transcription	Brain Substantia Nigra	brain
13	chr15:78470600-78477200	Weak transcription	Brain Anterior Caudate	brain
14	chr15:78470600-78486600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr15:78471200-78475800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr15:78472400-78475400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:78473600-78477200	Weak transcription	Spleen	Spleen
18	chr15:78473800-78474800	Weak transcription	Thymus	Thymus
19	chr15:78474200-78474800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:78474400-78474800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:78474400-78475000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:78474600-78475000	Weak transcription	HepG2	liver

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