Variant report

Variant	rs4945073
Chromosome Location	chr11:76047793-76047794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10736804	0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10793152	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793154	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10793155	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899209	0.84[ASW][hapmap];0.96[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.97[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10899211	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236720	0.87[ASN][1000 genomes]
rs4944105	0.96[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap]
rs4945067	0.87[EUR][1000 genomes]
rs4945068	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945069	0.87[EUR][1000 genomes]
rs4945071	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4945072	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4945074	0.85[EUR][1000 genomes]
rs4945075	0.80[AFR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4945076	0.84[EUR][1000 genomes]
rs7126625	0.88[CEU][hapmap];0.81[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes]
rs7127175	0.81[EUR][1000 genomes]
rs7924921	0.80[AMR][1000 genomes];0.88[EUR][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	nsv524020	chr11:76033374-76047793	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4945073	PAAF1	cis	parietal	SCAN
rs4945073	ARHGEF17	cis	cerebellum	SCAN
rs4945073	ARRB1	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76039400-76048800	Weak transcription	Right Atrium	heart
2	chr11:76046600-76048000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
3	chr11:76046600-76048400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:76046600-76054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:76046800-76051400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr11:76047000-76051400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:76047200-76048200	Enhancers	Adipose Nuclei	Adipose
8	chr11:76047200-76048200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr11:76047200-76049000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:76047400-76047800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:76047600-76047800	Enhancers	Fetal Muscle Leg	muscle
12	chr11:76047600-76048200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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

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