Variant report

Variant	rs7550219
Chromosome Location	chr1:193603665-193603666
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:193602279..193604026-chr1:193606853..193608371,2	K562	blood:
2	chr1:193596850..193598572-chr1:193600474..193603843,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12060042	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12079227	0.81[ASN][1000 genomes]
rs12116751	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131305	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12134206	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12135345	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138394	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144307	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12726685	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12737948	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12747654	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12751433	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12756397	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1339319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1887629	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34195829	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597749	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35418296	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657872	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4657874	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60581324	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61831962	0.85[ASN][1000 genomes]
rs61831963	0.85[ASN][1000 genomes]
rs6428182	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678275	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689774	0.81[ASN][1000 genomes]
rs6691652	1.00[CHD][hapmap]
rs6695669	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703565	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71642926	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7512670	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524134	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524872	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7541624	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7541925	0.82[EUR][1000 genomes];0.81[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	nsv1008266	chr1:193550185-194481053	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7550219	RGS18	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193596800-193603800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:193603200-193604200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:193603200-193604400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr1:193603400-193604000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr1:193603400-193604000	Enhancers	Primary T cells from cord blood	blood
6	chr1:193603400-193604000	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:193603400-193604000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:193603400-193604000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:193603400-193604200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:193603400-193604400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr1:193603400-193605000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:193603600-193604000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr1:193603600-193604200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:193603600-193604200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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