Variant report

Variant	rs16926648
Chromosome Location	chr11:5714451-5714452
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	POLR2A	chr11:5714247-5714659	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
TRIM22	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10734538	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10769180	0.86[CHD][hapmap]
rs12786517	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1814720	0.93[ASN][1000 genomes]
rs1814721	0.93[ASN][1000 genomes]
rs4329717	0.96[ASN][1000 genomes]
rs4579958	0.93[ASN][1000 genomes]
rs4910835	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4992800	0.91[ASN][1000 genomes]
rs4992803	0.93[ASN][1000 genomes]
rs7124435	0.82[CHB][hapmap];0.89[CHD][hapmap];0.83[ASN][1000 genomes]
rs7932268	0.84[AMR][1000 genomes]
rs885002	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];0.94[AMR][1000 genomes];0.97[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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5711600-5717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:5711800-5717400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:5712000-5723000	Weak transcription	Fetal Stomach	stomach
4	chr11:5712200-5717800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:5712200-5719400	Weak transcription	Gastric	stomach
6	chr11:5712200-5723600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:5712200-5725200	Weak transcription	Fetal Heart	heart
8	chr11:5712400-5715000	Weak transcription	Spleen	Spleen
9	chr11:5712400-5717000	Weak transcription	Aorta	Aorta
10	chr11:5712400-5717400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:5712400-5717400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:5712400-5717600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:5712400-5719400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:5712400-5723000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:5712400-5723000	Weak transcription	Fetal Intestine Large	intestine
16	chr11:5712400-5730200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:5712400-5730600	Weak transcription	Fetal Lung	lung
18	chr11:5712400-5731800	Weak transcription	NH-A	brain
19	chr11:5712400-5732400	Weak transcription	Pancreas	Pancrea
20	chr11:5712400-5732400	Weak transcription	Stomach Mucosa	stomach
21	chr11:5712600-5715000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:5712600-5715600	Weak transcription	Ovary	ovary
23	chr11:5712600-5717400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:5712600-5717400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:5712600-5717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:5712600-5717800	Weak transcription	Placenta	Placenta
27	chr11:5712600-5723800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr11:5712600-5729200	Weak transcription	Esophagus	oesophagus
29	chr11:5712600-5730200	Weak transcription	NHEK	skin
30	chr11:5712600-5732000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:5712600-5732600	Weak transcription	Colonic Mucosa	Colon
32	chr11:5713000-5715000	Weak transcription	Small Intestine	intestine
33	chr11:5713000-5716400	Weak transcription	HSMMtube	muscle
34	chr11:5713000-5717400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:5713000-5717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:5713000-5717400	Weak transcription	Lung	lung
37	chr11:5713000-5717400	Weak transcription	HMEC	breast
38	chr11:5713000-5723000	Weak transcription	Right Ventricle	heart
39	chr11:5713000-5726000	Weak transcription	Left Ventricle	heart
40	chr11:5713000-5734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:5713200-5715000	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:5713200-5715200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:5713200-5717400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr11:5713200-5717600	Weak transcription	Fetal Muscle Leg	muscle
45	chr11:5713400-5717400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr11:5713400-5717400	Weak transcription	Liver	Liver
47	chr11:5713400-5717400	Weak transcription	Fetal Thymus	thymus
48	chr11:5713400-5717400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:5713600-5715400	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:5713600-5716000	Weak transcription	NHDF-Ad	bronchial

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