Variant report

Variant	rs7601115
Chromosome Location	chr2:86823608-86823609
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	chr2:86817719..86819365-chr2:86821480..86823766,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1015117	0.81[EUR][1000 genomes]
rs10169746	0.84[ASN][1000 genomes]
rs10184584	0.83[ASN][1000 genomes]
rs10184879	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10187753	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10187880	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1020306	0.80[EUR][1000 genomes]
rs10432704	0.82[ASN][1000 genomes]
rs1080551	0.84[ASN][1000 genomes]
rs11127045	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11127046	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11127047	0.83[ASN][1000 genomes]
rs1137684	0.81[EUR][1000 genomes]
rs11676576	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11684230	0.81[EUR][1000 genomes]
rs11689330	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12328637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12613282	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12614447	0.81[EUR][1000 genomes]
rs12615285	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12623509	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12714188	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12714199	0.84[ASN][1000 genomes]
rs12987172	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12991654	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13015620	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13034615	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13390713	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13408041	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13429696	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1518807	0.81[EUR][1000 genomes]
rs308900	0.97[ASN][1000 genomes]
rs3201448	0.81[EUR][1000 genomes]
rs34666164	0.84[ASN][1000 genomes]
rs3731812	0.81[EUR][1000 genomes]
rs422240	0.96[ASN][1000 genomes]
rs4832040	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4832041	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4832042	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4832043	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4832045	0.82[ASN][1000 genomes]
rs4832297	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4832299	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4832300	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4832302	0.84[ASN][1000 genomes]
rs4832303	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4832304	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62147239	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6728211	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6733569	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6738663	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6750226	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6752371	0.82[ASN][1000 genomes]
rs689912	0.84[ASN][1000 genomes]
rs7369138	0.81[EUR][1000 genomes]
rs7570640	0.84[ASN][1000 genomes]
rs7584882	0.82[ASN][1000 genomes]
rs7587034	0.84[ASN][1000 genomes]
rs9284788	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7601115	VPS24	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86819800-86831000	Weak transcription	Fetal Brain Female	brain
2	chr2:86820000-86830600	Weak transcription	Brain Anterior Caudate	brain
3	chr2:86820000-86830800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:86820200-86831000	Weak transcription	Fetal Brain Male	brain
5	chr2:86820200-86831000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr2:86820400-86828400	Weak transcription	Fetal Stomach	stomach
7	chr2:86820600-86831000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:86822200-86824200	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:86822800-86824000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr2:86823000-86830600	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:86823200-86842800	Weak transcription	Psoas Muscle	Psoas
12	chr2:86823400-86823800	Enhancers	Fetal Heart	heart
13	chr2:86823400-86826200	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:86823600-86824000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:86823600-86831200	Weak transcription	HSMMtube	muscle

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