Variant report

Variant	rs59723170
Chromosome Location	chr11:5705554-5705555
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:5705440-5705690	AG04450	lung:	n/a	n/a
2	CTCF	chr11:5705460-5705610	HPAF	blood vessel:	n/a	n/a
3	POLR2A	chr11:5704924-5706864	GM15510	blood:	n/a	n/a
4	CTCF	chr11:5705321-5706844	A549	lung:	n/a	chr11:5705994-5706007
5	POLR2A	chr11:5703536-5706824	IMR90	lung:	n/a	n/a
6	POLR2A	chr11:5704925-5706866	GM12891	blood:	n/a	n/a
7	MXI1	chr11:5705426-5706640	GM12878	blood:	n/a	n/a
8	USF2	chr11:5705516-5706565	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:5705538-5706733	GM12892	blood:	n/a	n/a
10	BRCA1	chr11:5705534-5706602	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:5704791-5706700	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:5704949-5706674	HUVEC	blood vessel:	n/a	n/a
13	ZC3H11A	chr11:5705539-5705620	K562	blood:	n/a	n/a
14	POLR2A	chr11:5704925-5706532	PBDE	blood:	n/a	n/a
15	SIN3AK20	chr11:5705520-5706299	PANC-1	pancreas:	n/a	n/a
16	EP300	chr11:5705528-5706472	GM12878	blood:	n/a	n/a
17	SIN3A	chr11:5705527-5706505	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:5705476-5706558	GM12878	blood:	n/a	n/a
19	NFYB	chr11:5704605-5705595	GM12878	blood:	n/a	chr11:5705025-5705040
20	RELA	chr11:5705503-5706631	GM12891	blood:	n/a	n/a
21	WRNIP1	chr11:5705318-5706572	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:5705377-5706744	HUVEC	blood vessel:	n/a	n/a
23	POU2F2	chr11:5704872-5706595	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:5705338-5705584	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:5704753-5706635	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:5704926-5706625	GM12892	blood:	n/a	n/a
27	POLR2A	chr11:5705370-5706669	GM19099	blood:	n/a	n/a
28	POLR2A	chr11:5704925-5706840	GM12878	blood:	n/a	n/a
29	CEBPB	chr11:5705506-5706822	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
2	chr11:5700658..5702927-chr11:5704276..5706133,2	K562	blood:
3	11:5033143-5038367..11:5700314-5707362	K562	blood:
4	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
5	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
6	chr11:5524818..5527723-chr11:5704615..5707499,2	K562	blood:

No data

Variant related genes	Relation type
TRIM5	TF binding region
ENSG00000224300	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000196565	Chromatin interaction
ENSG00000176951	Chromatin interaction
ENSG00000132256	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000231070	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	0.93[ASN][1000 genomes]
rs1995162	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2291841	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2343226	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2880575	0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4992804	0.93[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs57197373	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59386016	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72484712	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
rs59723170	TRIM22	cis	Muscle Skeletal	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5688000-5705600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5697000-5705600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:5700600-5705600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:5701400-5705600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:5701400-5705800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:5704600-5705600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:5704600-5705600	Weak transcription	Gastric	stomach
8	chr11:5704600-5705600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:5704600-5705600	Weak transcription	Spleen	Spleen
10	chr11:5704600-5705800	Active TSS	Dnd41	blood
11	chr11:5704600-5706600	Active TSS	Colonic Mucosa	Colon
12	chr11:5704600-5706800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:5704600-5706800	Active TSS	Stomach Smooth Muscle	stomach
14	chr11:5704800-5705600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:5704800-5706600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:5705000-5705600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:5705000-5705600	Active TSS	Duodenum Mucosa	Duodenum
18	chr11:5705000-5706400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:5705000-5706400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:5705000-5706400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:5705000-5706400	Active TSS	Colon Smooth Muscle	Colon
22	chr11:5705000-5706400	Active TSS	Fetal Lung	lung
23	chr11:5705000-5706400	Active TSS	Pancreas	Pancrea
24	chr11:5705000-5706400	Active TSS	NHLF	lung
25	chr11:5705000-5706600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:5705000-5706600	Active TSS	Fetal Intestine Small	intestine
27	chr11:5705000-5706600	Active TSS	Thymus	Thymus
28	chr11:5705000-5706800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:5705000-5706800	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr11:5705200-5705600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:5705200-5705600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:5705200-5705800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:5705200-5705800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr11:5705200-5705800	Flanking Active TSS	Fetal Thymus	thymus
35	chr11:5705200-5706000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr11:5705200-5706000	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr11:5705200-5706000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:5705200-5706000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr11:5705200-5706000	Flanking Active TSS	HUVEC	blood vessel
40	chr11:5705200-5706200	Active TSS	Fetal Muscle Trunk	muscle
41	chr11:5705200-5706400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:5705200-5706400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:5705200-5706400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:5705200-5706400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:5705200-5706400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr11:5705200-5706400	Active TSS	Fetal Intestine Large	intestine
47	chr11:5705200-5706400	Active TSS	Lung	lung
48	chr11:5705200-5706400	Active TSS	Right Ventricle	heart
49	chr11:5705200-5706400	Active TSS	HSMM	muscle
50	chr11:5705200-5706600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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