Variant report

Variant	rs72484712
Chromosome Location	chr11:5710328-5710329
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	POLR2A	chr11:5710194-5714647	GM12891	blood:	n/a	n/a
2	CUX1	chr11:5710287-5711959	GM12878	blood:	n/a	chr11:5710472-5710486 chr11:5710328-5710342

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:

Variant related genes	Relation type
TRIM22	TF binding region
TRIM5	TF binding region
ENSG00000225003	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16934536	0.98[ASN][1000 genomes]
rs1995162	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291841	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2343226	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2880575	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4992804	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57197373	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59386016	0.87[ASN][1000 genomes]
rs59723170	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72484712	TRIM22	cis	Muscle Skeletal	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5706200-5711000	Weak transcription	Gastric	stomach
2	chr11:5706400-5711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:5706400-5711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:5706400-5711000	Weak transcription	Lung	lung
5	chr11:5706600-5710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:5706600-5710800	Weak transcription	Fetal Brain Male	brain
7	chr11:5706600-5710800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:5706600-5711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:5706600-5711000	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:5706600-5711000	Weak transcription	Brain Substantia Nigra	brain
11	chr11:5706600-5711000	Weak transcription	Colonic Mucosa	Colon
12	chr11:5706600-5711000	Weak transcription	Fetal Heart	heart
13	chr11:5706800-5710400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:5706800-5710400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:5706800-5710400	Weak transcription	HUVEC	blood vessel
16	chr11:5706800-5710400	Weak transcription	NH-A	brain
17	chr11:5706800-5710400	Weak transcription	NHEK	skin
18	chr11:5706800-5710600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:5706800-5710600	Weak transcription	Liver	Liver
20	chr11:5706800-5710600	Weak transcription	Fetal Stomach	stomach
21	chr11:5706800-5710800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:5706800-5710800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:5706800-5710800	Weak transcription	Fetal Thymus	thymus
24	chr11:5706800-5710800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:5706800-5710800	Weak transcription	HSMMtube	muscle
26	chr11:5706800-5710800	Weak transcription	K562	blood
27	chr11:5706800-5711000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:5706800-5711000	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:5706800-5711000	Weak transcription	Fetal Intestine Large	intestine
30	chr11:5706800-5711000	Weak transcription	Fetal Intestine Small	intestine
31	chr11:5706800-5711000	Weak transcription	Placenta	Placenta
32	chr11:5707200-5712200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:5707400-5710400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr11:5707400-5710800	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:5707600-5710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:5707600-5710800	Weak transcription	A549	lung
37	chr11:5709000-5710600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr11:5709000-5710800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr11:5709000-5710800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:5709200-5710400	Enhancers	Primary B cells from cord blood	blood
41	chr11:5709200-5710600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr11:5709200-5710600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr11:5709200-5710800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:5709400-5710600	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:5709400-5710600	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:5709400-5710800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr11:5709400-5711000	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr11:5709600-5710400	Enhancers	Primary T cells from cord blood	blood
49	chr11:5709600-5710600	Enhancers	Primary hematopoietic stem cells	blood
50	chr11:5709600-5710600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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