Variant report

Variant	rs531698
Chromosome Location	chr11:120087957-120087958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120080610..120089931-chr11:120105398..120112199,18	K562	blood:
2	chr11:120087659..120092163-chr11:120106045..120111255,7	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POU2F3-2	chr11:120087805-120088221	NONHSAT024719

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2465653	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2465654	0.97[EUR][1000 genomes]
rs2953362	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs477855	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs499434	0.94[ASN][1000 genomes]
rs537089	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs541857	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576263	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs921574	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs531698	POU2F3	cis	Nerve Tibial	GTEx
rs531698	POU2F3	cis	Esophagus Muscularis	GTEx
rs531698	POU2F3	cis	Heart Left Ventricle	GTEx
rs531698	POU2F3	cis	Stomach	GTEx
rs531698	POU2F3	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120082800-120091800	Enhancers	Placenta	Placenta
2	chr11:120082800-120095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr11:120083400-120088400	Weak transcription	Brain Angular Gyrus	brain
4	chr11:120083600-120089000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:120083600-120089600	Weak transcription	Fetal Heart	heart
6	chr11:120083800-120088400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:120083800-120094000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr11:120084000-120088400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:120084000-120089000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:120084000-120092200	Weak transcription	Fetal Thymus	thymus
11	chr11:120084200-120088200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:120084200-120088400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:120084200-120093000	Genic enhancers	Fetal Muscle Leg	muscle
14	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:120084400-120088400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:120084400-120088400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:120084400-120088400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:120084400-120088400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:120084400-120088400	Weak transcription	Right Atrium	heart
20	chr11:120084400-120093000	Genic enhancers	Fetal Intestine Large	intestine
21	chr11:120084600-120089000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:120084600-120091400	Genic enhancers	Fetal Stomach	stomach
23	chr11:120084600-120091600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:120084600-120093200	Genic enhancers	Fetal Intestine Small	intestine
25	chr11:120084600-120095400	Weak transcription	Fetal Kidney	kidney
26	chr11:120084800-120088400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:120084800-120088400	Weak transcription	Small Intestine	intestine
28	chr11:120084800-120092000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr11:120085000-120088600	Genic enhancers	Rectal Mucosa Donor 31	rectum
30	chr11:120085000-120092800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr11:120085000-120093200	Genic enhancers	Fetal Muscle Trunk	muscle
32	chr11:120085200-120092400	Enhancers	Ovary	ovary
33	chr11:120085600-120088000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:120085600-120088400	Weak transcription	Brain Anterior Caudate	brain
35	chr11:120085600-120088400	Enhancers	Stomach Smooth Muscle	stomach
36	chr11:120085800-120091000	Enhancers	Liver	Liver
37	chr11:120086000-120092800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:120086200-120090600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:120086200-120090800	Enhancers	Fetal Lung	lung
40	chr11:120086400-120090000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:120086400-120091600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
42	chr11:120086400-120092600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:120086400-120097000	Weak transcription	NHEK	skin
44	chr11:120086600-120088400	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr11:120086600-120088800	Genic enhancers	Colonic Mucosa	Colon
46	chr11:120086600-120095800	Weak transcription	NH-A	brain
47	chr11:120086800-120088000	Enhancers	Left Ventricle	heart
48	chr11:120086800-120088000	Enhancers	Spleen	Spleen
49	chr11:120086800-120088400	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr11:120086800-120088400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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