Variant report

Variant	rs16934536
Chromosome Location	chr11:5713788-5713789
allele	C/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	CHD1	chr11:5713674-5713792	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:5713262-5714109	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:5710344-5713953	GM12878	blood:	n/a	n/a
5	CHD2	chr11:5713601-5713801	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:5712732-5713969	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:5713250-5714139	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TRIM22	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17305868	0.87[JPT][hapmap]
rs1995162	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2291841	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2343226	0.93[ASN][1000 genomes]
rs2880575	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4992804	0.93[ASN][1000 genomes]
rs57197373	0.96[ASN][1000 genomes]
rs57970376	0.91[AFR][1000 genomes]
rs59386016	0.86[ASN][1000 genomes]
rs59723170	0.93[ASN][1000 genomes]
rs72484712	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv896949	chr11:5711177-5722444	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers 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
rs16934536	TRIM22	cis	Muscle Skeletal	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5710200-5714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:5710400-5714000	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr11:5710400-5714000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:5710400-5714000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr11:5710400-5714000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:5710600-5713800	Active TSS	Primary T cells fromperipheralblood	blood
7	chr11:5710600-5713800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr11:5710600-5713800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:5710600-5713800	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr11:5710600-5714000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:5710600-5714000	Active TSS	Right Atrium	heart
12	chr11:5710800-5713800	Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:5710800-5714000	Active TSS	Rectal Smooth Muscle	rectum
14	chr11:5711000-5713800	Active TSS	Brain Cingulate Gyrus	brain
15	chr11:5711000-5714000	Active TSS	Brain Hippocampus Middle	brain
16	chr11:5711400-5714000	Flanking Active TSS	Dnd41	blood
17	chr11:5711600-5717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr11:5711800-5714000	Active TSS	Adipose Nuclei	Adipose
19	chr11:5711800-5717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:5712000-5723000	Weak transcription	Fetal Stomach	stomach
21	chr11:5712200-5717800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:5712200-5719400	Weak transcription	Gastric	stomach
23	chr11:5712200-5723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
25	chr11:5712400-5714000	Active TSS	Duodenum Mucosa	Duodenum
26	chr11:5712400-5715000	Weak transcription	Spleen	Spleen
27	chr11:5712400-5717000	Weak transcription	Aorta	Aorta
28	chr11:5712400-5717400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:5712400-5717400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:5712400-5717600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:5712400-5719400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:5712400-5723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:5712400-5723000	Weak transcription	Fetal Intestine Large	intestine
34	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
36	chr11:5712400-5731800	Weak transcription	NH-A	brain
37	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
38	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
39	chr11:5712600-5713800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:5712600-5715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:5712600-5715600	Weak transcription	Ovary	ovary
42	chr11:5712600-5717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:5712600-5717400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:5712600-5717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:5712600-5717800	Weak transcription	Placenta	Placenta
46	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
48	chr11:5712600-5730200	Weak transcription	NHEK	skin
49	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon

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