Variant report

Variant	rs752969
Chromosome Location	chr11:56891062-56891063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10501362	0.89[EUR][1000 genomes]
rs12421295	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12421737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17649150	0.89[EUR][1000 genomes]
rs1941047	0.82[ASN][1000 genomes]
rs2000737	0.81[ASN][1000 genomes]
rs506788	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56007623	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61886739	0.89[EUR][1000 genomes]
rs61886744	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs638326	0.84[EUR][1000 genomes]
rs7110024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72914002	0.89[EUR][1000 genomes]
rs72915952	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][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	nsv832162	chr11:56716658-56901528	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs752969	PRG2	cis	cerebellum	SCAN
rs752969	OR8I2	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56888200-56894600	Enhancers	K562	blood
2	chr11:56888400-56891200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr11:56889000-56893200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:56889000-56893400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:56889200-56892400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:56889400-56893200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr11:56889600-56891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:56889600-56891200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:56889600-56891200	Weak transcription	Psoas Muscle	Psoas
10	chr11:56890000-56891200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:56890000-56894200	Weak transcription	A549	lung
12	chr11:56890400-56893200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:56890600-56891400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:56890600-56893000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr11:56890600-56893000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:56890800-56891600	Enhancers	Fetal Intestine Small	intestine
17	chr11:56890800-56891800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:56890800-56892000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr11:56890800-56892600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:56890800-56893200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr11:56890800-56894200	Enhancers	Placenta	Placenta
22	chr11:56891000-56891600	Enhancers	Adipose Nuclei	Adipose
23	chr11:56891000-56892600	Enhancers	H9 Cell Line	embryonic stem cell
24	chr11:56891000-56892600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:56891000-56892600	Enhancers	Right Atrium	heart
26	chr11:56891000-56892600	Enhancers	Spleen	Spleen
27	chr11:56891000-56892800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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