Variant report

Variant	rs8008936
Chromosome Location	chr14:65680207-65680208
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	chr14:65672466..65675216-chr14:65679164..65681633,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MAX-1	chr14:65679611-65680644	ENSG00000255002
2	lnc-MAX-1	chr14:65679612-65680644	XLOC_011053

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs55931761	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56082447	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573592	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564932	chr14:65660502-65691545	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv992816	chr14:65678629-65686596	Enhancers Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8008936	AKAP5	cis	parietal	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65672200-65681400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:65672800-65691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:65674000-65691400	Weak transcription	Thymus	Thymus
4	chr14:65675600-65680800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:65675600-65681400	Weak transcription	Spleen	Spleen
6	chr14:65675600-65687000	Weak transcription	Fetal Intestine Small	intestine
7	chr14:65675800-65687000	Weak transcription	Fetal Intestine Large	intestine
8	chr14:65677200-65681400	Weak transcription	Right Atrium	heart
9	chr14:65677200-65683200	Weak transcription	Brain Germinal Matrix	brain
10	chr14:65677600-65683200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:65678400-65683800	Weak transcription	GM12878-XiMat	blood
12	chr14:65678600-65681400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:65678600-65681600	Weak transcription	Brain Anterior Caudate	brain
14	chr14:65678600-65681600	Weak transcription	Brain Substantia Nigra	brain
15	chr14:65678600-65681800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:65678600-65683200	Weak transcription	Brain Angular Gyrus	brain
17	chr14:65678600-65683400	Weak transcription	Brain Hippocampus Middle	brain
18	chr14:65678600-65683600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:65678600-65690600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:65678800-65680800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:65678800-65681800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:65678800-65683200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr14:65678800-65684000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:65679400-65680600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr14:65679800-65680400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:65679800-65680800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr14:65679800-65680800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:65679800-65681400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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