Variant report

Variant	rs7007191
Chromosome Location	chr8:60844367-60844368
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	chr8:60844306..60846738-chr8:60851041..60853636,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10957116	0.90[ASN][1000 genomes]
rs10957117	0.90[ASN][1000 genomes]
rs1497033	0.98[ASN][1000 genomes]
rs1497034	0.98[ASN][1000 genomes]
rs16925424	0.98[ASN][1000 genomes]
rs16925436	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925476	0.96[ASN][1000 genomes]
rs16925485	0.90[ASN][1000 genomes]
rs16925486	0.90[ASN][1000 genomes]
rs17270329	0.88[EUR][1000 genomes]
rs17270443	0.88[EUR][1000 genomes]
rs17342137	0.88[EUR][1000 genomes]
rs17342347	0.88[EUR][1000 genomes]
rs17343412	0.88[EUR][1000 genomes]
rs60430945	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62509989	0.88[EUR][1000 genomes]
rs62510029	0.88[EUR][1000 genomes]
rs62510039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62510040	0.88[EUR][1000 genomes]
rs62511073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62511080	0.88[EUR][1000 genomes]
rs6985296	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6986157	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7002513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7002780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7003409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7003592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7007065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816800	1.00[ASN][1000 genomes]
rs7823305	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7823331	0.98[ASN][1000 genomes]
rs7827378	0.98[ASN][1000 genomes]
rs7827640	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827750	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7827752	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7838048	0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831331	chr8:60770382-60959633	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7007191	NCRNA00200	trans	lymphoblastoid	seeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60835000-60844600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:60842800-60845000	Enhancers	Stomach Smooth Muscle	stomach
3	chr8:60843200-60846000	Enhancers	Colon Smooth Muscle	Colon
4	chr8:60843800-60845200	Enhancers	Fetal Stomach	stomach
5	chr8:60844000-60845000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:60844000-60845400	Enhancers	Ovary	ovary
7	chr8:60844000-60845800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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