Variant report

Variant	rs2469216
Chromosome Location	chr15:76613477-76613478
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76601284..76605220-chr15:76605803..76613495,17	K562	blood:
2	chr15:76611267..76613849-chr15:76627737..76630129,2	MCF-7	breast:
3	chr15:76612386..76614060-chr15:76615865..76617925,2	MCF-7	breast:
4	chr15:76601574..76614388-chr15:76623703..76634730,38	K562	blood:
5	chr15:76608689..76611193-chr15:76611835..76613495,2	MCF-7	breast:
6	chr15:76598768..76600941-chr15:76612382..76615541,3	K562	blood:

Variant related genes	Relation type
ENSG00000140374	Chromatin interaction
ENSG00000259514	Chromatin interaction
ENSG00000159556	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11858964	0.86[EUR][1000 genomes]
rs1801591	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1810348	0.88[EUR][1000 genomes]
rs1914816	0.85[ASN][1000 genomes]
rs2291449	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456027	0.85[ASN][1000 genomes]
rs2456033	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2456040	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456042	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456047	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2456063	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2456066	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2456067	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2456070	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456072	0.85[ASN][1000 genomes]
rs2456074	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2456075	0.85[ASN][1000 genomes]
rs2456078	0.85[ASN][1000 genomes]
rs2460146	0.85[ASN][1000 genomes]
rs2460151	0.85[ASN][1000 genomes]
rs2460153	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2460158	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469211	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2469212	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2469214	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469215	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469533	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469538	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469539	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469552	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2469564	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2469568	0.84[AMR][1000 genomes]
rs2469573	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2938691	0.85[ASN][1000 genomes]
rs2956875	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2957037	0.85[ASN][1000 genomes]
rs2959846	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4489970	0.88[EUR][1000 genomes]
rs4886490	0.88[EUR][1000 genomes]
rs6495200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180257	0.87[EUR][1000 genomes]
rs8042255	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs874223	0.88[EUR][1000 genomes]
rs874224	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2469216	ISL2	Cis_1M	lymphoblastoid	RTeQTL
rs2469216	ISL2	cis	Whole Blood	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76604200-76613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:76604400-76613600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:76607800-76619400	Weak transcription	Hela-S3	cervix
4	chr15:76612000-76613800	Enhancers	A549	lung
5	chr15:76612800-76619400	Weak transcription	K562	blood
6	chr15:76613400-76613600	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr15:76613400-76613800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr15:76613400-76614000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:76613400-76614000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr15:76613400-76614200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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