Variant report

Variant	rs12913286
Chromosome Location	chr15:57606070-57606071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57602461..57607778-chr15:57612282..57619576,11	K562	blood:
2	chr15:57597621..57600563-chr15:57604167..57606534,3	K562	blood:
3	chr15:57600919..57606103-chr15:57620754..57624822,5	K562	blood:
4	chr15:57598904..57601336-chr15:57602570..57606633,5	K562	blood:
5	chr15:57564291..57566333-chr15:57603914..57606752,2	K562	blood:

Variant related genes	Relation type
ENSG00000260870	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10152785	0.83[EUR][1000 genomes]
rs11071311	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11631073	0.84[EUR][1000 genomes]
rs11855537	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12904145	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17820184	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2414501	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2544132	0.83[EUR][1000 genomes]
rs2591053	0.97[EUR][1000 genomes]
rs2909548	0.82[EUR][1000 genomes]
rs4774923	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4774924	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4774926	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4774927	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4774928	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61999614	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8027325	0.97[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	nsv1045611	chr15:57350965-58070807	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv833021	chr15:57495413-57751366	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1054547	chr15:57600488-57977659	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12913286	LINC00926	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57599400-57612800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr15:57599600-57612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:57599600-57612800	Weak transcription	GM12878-XiMat	blood
4	chr15:57599600-57614200	Weak transcription	Small Intestine	intestine
5	chr15:57599600-57617800	Weak transcription	Spleen	Spleen
6	chr15:57602000-57606800	Enhancers	Fetal Intestine Large	intestine
7	chr15:57602400-57606800	Enhancers	Fetal Intestine Small	intestine
8	chr15:57602400-57607200	Enhancers	Fetal Muscle Leg	muscle
9	chr15:57602800-57617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr15:57603200-57611400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:57604200-57612800	Weak transcription	Primary B cells from cord blood	blood
12	chr15:57605000-57619400	Weak transcription	Pancreas	Pancrea
13	chr15:57605400-57606200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:57605600-57606200	Enhancers	HepG2	liver
15	chr15:57605600-57607800	Weak transcription	Right Atrium	heart
16	chr15:57605600-57611000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr15:57605600-57611800	Weak transcription	Fetal Stomach	stomach
18	chr15:57605600-57612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:57605600-57612400	Weak transcription	Fetal Brain Male	brain
20	chr15:57605600-57612800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:57605600-57614400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:57605800-57606200	Weak transcription	Fetal Muscle Trunk	muscle

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