Variant report

Variant	rs590550
Chromosome Location	chr11:75424217-75424218
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs4944086	1.00[TSI][hapmap]
rs541993	0.82[TSI][hapmap]
rs546156	0.82[TSI][hapmap]
rs603290	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs604694	0.82[TSI][hapmap]
rs622403	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs632786	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs656007	0.87[TSI][hapmap]
rs660343	0.82[TSI][hapmap]
rs675028	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110142	1.00[TSI][hapmap]
rs7114999	1.00[TSI][hapmap]
rs7947980	1.00[TSI][hapmap]

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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	esv3368208	chr11:75423782-75424232	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs590550	SETDB2	trans	cerebellum	SCAN
rs590550	P2RY2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75423800-75425000	Enhancers	Colonic Mucosa	Colon
2	chr11:75423800-75425000	Enhancers	Duodenum Mucosa	Duodenum
3	chr11:75423800-75425200	Enhancers	K562	blood
4	chr11:75424000-75424800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr11:75424000-75425000	Enhancers	Fetal Intestine Small	intestine
6	chr11:75424000-75425400	Enhancers	Fetal Intestine Large	intestine
7	chr11:75424000-75428200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr11:75424200-75425000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:75424200-75426200	Enhancers	Rectal Mucosa Donor 29	rectum

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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