Variant report

Variant	rs1445606
Chromosome Location	chr11:105480648-105480649
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:105480640-105480790	HA-sp	spinal cord:	n/a	chr11:105480643-105480656 chr11:105480643-105480652
2	RAD21	chr11:105480549-105481001	H1-hESC	embryonic stem cell:	n/a	chr11:105480886-105480899
3	CTCF	chr11:105480640-105480790	HUVEC	blood vessel:	n/a	chr11:105480643-105480656 chr11:105480643-105480652
4	RAD21	chr11:105479976-105481005	H1-hESC	embryonic stem cell:	n/a	chr11:105480199-105480211 chr11:105480242-105480254 chr11:105480886-105480899
5	RAD21	chr11:105480635-105481050	IMR90	lung:	n/a	chr11:105480886-105480899
6	RAD21	chr11:105480581-105480940	SK-N-SH_RA	brain:	n/a	chr11:105480886-105480899
7	CTCF	chr11:105480640-105480790	HCPEpiC	choroid plexus:	n/a	chr11:105480643-105480656 chr11:105480643-105480652
8	SIN3A	chr11:105480043-105481906	H1-hESC	embryonic stem cell:	n/a	n/a
9	JUND	chr11:105480564-105481982	H1-hESC	embryonic stem cell:	n/a	n/a
10	TAF1	chr11:105480622-105481621	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:105480465-105481700	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr11:105479744-105482923	SK-N-SH	brain:	n/a	chr11:105481413-105481420 chr11:105480199-105480211 chr11:105480242-105480254 chr11:105480886-105480899 chr11:105481235-105481247 chr11:105482690-105482703
13	CTCF	chr11:105480580-105480730	RPTEC	kidney:	n/a	chr11:105480643-105480656 chr11:105480643-105480652
14	ZNF143	chr11:105480621-105481431	H1-hESC	embryonic stem cell:	n/a	chr11:105481267-105481285
15	YY1	chr11:105480451-105481610	H1-hESC	embryonic stem cell:	n/a	chr11:105481314-105481323 chr11:105480885-105480896 chr11:105481312-105481323 chr11:105481427-105481449
16	CTBP2	chr11:105480084-105481474	H1-hESC	embryonic stem cell:	n/a	n/a
17	REST	chr11:105480135-105481694	H1-neurons	neurons:	n/a	chr11:105480767-105480780 chr11:105481187-105481200
18	RAD21	chr11:105480608-105480908	SK-N-SH_RA	brain:	n/a	chr11:105480886-105480899
19	MXI1	chr11:105479952-105483398	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
GRIA4	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1373923	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1822984	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1942976	1.00[ASN][1000 genomes]
rs57833328	0.89[ASN][1000 genomes]
rs7948845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs973962	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv949337	chr11:104950007-105510193	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:105479200-105484400	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr11:105479400-105485800	Active TSS	Brain Angular Gyrus	brain
3	chr11:105479800-105480800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:105479800-105481800	Active TSS	NHDF-Ad	bronchial
5	chr11:105479800-105482000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr11:105479800-105484200	Active TSS	Brain Substantia Nigra	brain
7	chr11:105479800-105488600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:105480000-105480800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:105480000-105480800	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr11:105480000-105480800	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr11:105480000-105481000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:105480000-105481200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:105480000-105482000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:105480000-105482000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:105480000-105482200	Active TSS	Fetal Intestine Large	intestine
16	chr11:105480200-105480800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:105480200-105480800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:105480200-105480800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
19	chr11:105480200-105480800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
20	chr11:105480200-105480800	Active TSS	Colon Smooth Muscle	Colon
21	chr11:105480200-105480800	Flanking Active TSS	Fetal Brain Female	brain
22	chr11:105480200-105480800	Enhancers	Ovary	ovary
23	chr11:105480200-105480800	Enhancers	Pancreas	Pancrea
24	chr11:105480200-105481000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
25	chr11:105480200-105481000	Bivalent Enhancer	Placenta	Placenta
26	chr11:105480200-105481000	Enhancers	Lung	lung
27	chr11:105480200-105481200	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
28	chr11:105480200-105481200	Flanking Bivalent TSS/Enh	NH-A	brain
29	chr11:105480200-105481400	Enhancers	Esophagus	oesophagus
30	chr11:105480200-105481600	Active TSS	Rectal Smooth Muscle	rectum
31	chr11:105480200-105482000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
32	chr11:105480200-105482000	Enhancers	Spleen	Spleen
33	chr11:105480200-105482200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:105480200-105482200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr11:105480200-105482400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:105480200-105482400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr11:105480200-105482600	Active TSS	Fetal Brain Male	brain
38	chr11:105480200-105482800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr11:105480200-105483000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:105480200-105483000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:105480400-105480800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:105480400-105480800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr11:105480400-105481000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
44	chr11:105480400-105481000	Bivalent Enhancer	Fetal Lung	lung
45	chr11:105480400-105481200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
46	chr11:105480400-105481200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
47	chr11:105480400-105481800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr11:105480400-105482600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr11:105480400-105482600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:105480400-105482600	Active TSS	Brain Cingulate Gyrus	brain

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