Variant report

Variant	rs7367601
Chromosome Location	chr1:94322494-94322495
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11165021	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11165022	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11165023	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11165025	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12029548	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12758972	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2092698	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2092699	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2103784	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2391321	0.86[EUR][1000 genomes]
rs4847191	0.86[EUR][1000 genomes]
rs4847263	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6664876	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6666633	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6681169	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6681265	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6684054	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6697189	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6700244	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7364663	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7513489	0.82[EUR][1000 genomes]
rs7513786	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7514828	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7517632	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs7518940	0.86[EUR][1000 genomes]
rs7555136	0.86[EUR][1000 genomes]
rs7556047	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7556107	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[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	nsv998755	chr1:94294015-94341712	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
2	esv3438453	chr1:94322264-94324762	Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7367601	RP11-488P3.1	cis	Muscle Skeletal	GTEx
rs7367601	DNTTIP2	Cis_1M	lymphoblastoid	RTeQTL
rs7367601	RP11-488P3.1	cis	lung	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94314200-94332800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:94314200-94334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:94314200-94334400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:94322200-94343600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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