Variant report

Variant	rs544761
Chromosome Location	chr11:64198787-64198788
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:64197420-64206402..11:64501239-64517861	GM12878	blood:
2	11:64197420-64206402..11:64402707-64415880	H1-hESC	embryonic stem cell:	embryo
3	11:64197420-64206402..11:64489786-64499245	GM12878	blood:
4	11:64197420-64206402..11:64415880-64426617	Hela-S3	cervix:
5	chr11:64197362..64199430-chr11:64200195..64202972,2	MCF-7	breast:
6	chr11:64198125..64200052-chr11:64263615..64266038,2	K562	blood:
7	11:64197420-64206402..11:64523887-64530985	Hela-S3	cervix:
8	11:64197420-64206402..11:64356433-64395036	K562	blood:
9	11:64197420-64206402..11:64426650-64437729	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000237410	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000197891	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10792433	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10897494	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10897495	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1198935	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34104296	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs534874	0.92[CEU][hapmap];0.95[EUR][1000 genomes]
rs553587	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs606063	0.92[CEU][hapmap];0.95[GIH][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs670837	0.95[EUR][1000 genomes]
rs682848	1.00[CEU][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7130280	0.84[CEU][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap]
rs7936395	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv555194	chr11:64189110-64238023	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs544761	RPS6KA4	cis	multi-tissue	Pritchard
rs544761	VPS37C	cis	parietal	SCAN
rs544761	ESRRA	cis	cerebellum	SCAN
rs544761	FLRT1	cis	cerebellum	SCAN
rs544761	FKBP2	cis	parietal	SCAN
rs544761	KAT5	cis	parietal	SCAN
rs544761	SLC22A24	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64197200-64201600	Weak transcription	Fetal Brain Male	brain
2	chr11:64197800-64199000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:64198200-64203800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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