Variant report

Variant	rs12168979
Chromosome Location	chr22:29811172-29811173
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10427661	0.93[ASN][1000 genomes]
rs2106265	0.97[EUR][1000 genomes]
rs2106266	0.97[EUR][1000 genomes]
rs5763221	0.97[EUR][1000 genomes]
rs5763222	0.94[EUR][1000 genomes]
rs5763223	0.96[EUR][1000 genomes]
rs6006131	0.90[EUR][1000 genomes]
rs6006134	0.94[EUR][1000 genomes]
rs6006135	0.96[EUR][1000 genomes]
rs6006139	0.89[EUR][1000 genomes]
rs7286640	0.97[EUR][1000 genomes]
rs9613901	0.97[EUR][1000 genomes]
rs9625794	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv964617	chr22:29795368-29819195	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1059994	chr22:29797373-29834766	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29808400-29811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29810200-29811600	Active TSS	A549	lung
3	chr22:29810400-29811800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:29810600-29811200	Active TSS	Liver	Liver
5	chr22:29810600-29811200	Active TSS	Monocytes-CD14+_RO01746	blood
6	chr22:29810600-29811400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr22:29810600-29811400	Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr22:29810600-29811400	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr22:29810600-29811400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr22:29810600-29811400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr22:29810600-29811600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr22:29810600-29811600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:29810600-29811800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:29810600-29812000	Active TSS	Colonic Mucosa	Colon
15	chr22:29810800-29811200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:29810800-29811200	Active TSS	Primary T cells fromperipheralblood	blood
17	chr22:29810800-29811200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr22:29810800-29811200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:29810800-29811200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:29810800-29811200	Active TSS	Adipose Nuclei	Adipose
21	chr22:29810800-29811200	Active TSS	Fetal Thymus	thymus
22	chr22:29810800-29811200	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr22:29810800-29811200	Active TSS	Thymus	Thymus
24	chr22:29810800-29811400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr22:29810800-29811400	Active TSS	Primary B cells from cord blood	blood
26	chr22:29810800-29811400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr22:29810800-29811400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr22:29810800-29811400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr22:29810800-29811400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr22:29810800-29811400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:29810800-29811400	Active TSS	Esophagus	oesophagus
32	chr22:29810800-29811400	Active TSS	Fetal Intestine Small	intestine
33	chr22:29810800-29811400	Active TSS	Pancreas	Pancrea
34	chr22:29810800-29811400	Active TSS	Psoas Muscle	Psoas
35	chr22:29810800-29811400	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr22:29810800-29811400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr22:29810800-29811400	Active TSS	Stomach Smooth Muscle	stomach
38	chr22:29810800-29811400	Active TSS	HSMMtube	muscle
39	chr22:29810800-29811400	Active TSS	NHLF	lung
40	chr22:29810800-29811600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
41	chr22:29810800-29811600	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr22:29810800-29811600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:29810800-29811600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr22:29810800-29811600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr22:29810800-29811600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr22:29810800-29811600	Active TSS	Gastric	stomach
47	chr22:29810800-29811600	Active TSS	Left Ventricle	heart
48	chr22:29810800-29811600	Active TSS	Rectal Smooth Muscle	rectum
49	chr22:29810800-29811600	Active TSS	Right Atrium	heart
50	chr22:29810800-29811600	Active TSS	Right Ventricle	heart

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