Variant report

Variant	rs57197373
Chromosome Location	chr11:5707284-5707285
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	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
2	chr11:5706176..5707758-chr11:5710825..5713115,2	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:

Variant related genes	Relation type
ENSG00000196565	Chromatin interaction
ENSG00000132274	Chromatin interaction
ENSG00000224300	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000176951	Chromatin interaction
ENSG00000231070	Chromatin interaction
ENSG00000167355	Chromatin interaction
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	0.96[ASN][1000 genomes]
rs1995162	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2291841	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2343226	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2880575	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4992804	0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs59386016	0.88[ASN][1000 genomes]
rs59723170	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72484712	0.83[EUR][1000 genomes];0.98[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
rs57197373	TRIM22	cis	Muscle Skeletal	GTEx

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5705400-5707400	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr11:5706200-5710000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:5706200-5711000	Weak transcription	Gastric	stomach
4	chr11:5706400-5710000	Weak transcription	Aorta	Aorta
5	chr11:5706400-5710200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:5706400-5710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:5706400-5711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:5706400-5711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:5706400-5711000	Weak transcription	Lung	lung
10	chr11:5706600-5707400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:5706600-5707400	Enhancers	Fetal Muscle Leg	muscle
12	chr11:5706600-5707600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr11:5706600-5709000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr11:5706600-5709400	Weak transcription	Small Intestine	intestine
15	chr11:5706600-5710000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:5706600-5710000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:5706600-5710000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:5706600-5710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:5706600-5710000	Weak transcription	Thymus	Thymus
20	chr11:5706600-5710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:5706600-5710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:5706600-5710200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:5706600-5710200	Weak transcription	Fetal Kidney	kidney
24	chr11:5706600-5710200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:5706600-5710200	Weak transcription	NHDF-Ad	bronchial
26	chr11:5706600-5710200	Weak transcription	NHLF	lung
27	chr11:5706600-5710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:5706600-5710800	Weak transcription	Fetal Brain Male	brain
29	chr11:5706600-5710800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:5706600-5711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:5706600-5711000	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:5706600-5711000	Weak transcription	Brain Substantia Nigra	brain
33	chr11:5706600-5711000	Weak transcription	Colonic Mucosa	Colon
34	chr11:5706600-5711000	Weak transcription	Fetal Heart	heart
35	chr11:5706800-5707400	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr11:5706800-5707400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:5706800-5707400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:5706800-5707400	Enhancers	Dnd41	blood
39	chr11:5706800-5707400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr11:5706800-5707600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:5706800-5708400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr11:5706800-5709000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr11:5706800-5709200	Weak transcription	Primary B cells from cord blood	blood
44	chr11:5706800-5709200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:5706800-5709600	Weak transcription	Primary T cells from cord blood	blood
46	chr11:5706800-5709600	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:5706800-5709600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:5706800-5709600	Weak transcription	GM12878-XiMat	blood
49	chr11:5706800-5709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:5706800-5709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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