Variant report

Variant	rs390720
Chromosome Location	chr22:22021418-22021419
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22018294..22022300-chr22:22291370..22294276,5	K562	blood:
2	chr22:22018767..22021764-chr22:22305458..22307396,2	K562	blood:
3	chr11:45471412..45471912-chr22:22020793..22021786,2	MCF-7	breast:
4	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
5	chr22:22019101..22022300-chr22:22291488..22294276,4	K562	blood:
6	chr22:22018793..22021806-chr22:22220364..22223026,4	K562	blood:
7	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
8	chr22:21355013..21358028-chr22:22019128..22023299,3	K562	blood:
9	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
10	chr22:21355013..21357927-chr22:22018389..22021827,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000230513	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11704601	1.00[AFR][1000 genomes]
rs11705259	1.00[AFR][1000 genomes]
rs1210390	0.89[ASN][1000 genomes]
rs1210407	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1210408	0.85[ASN][1000 genomes]
rs1210412	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs131666	1.00[AFR][1000 genomes]
rs34592211	1.00[AFR][1000 genomes]
rs35113423	1.00[AFR][1000 genomes]
rs35445502	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35844718	1.00[AFR][1000 genomes]
rs366026	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs368351	0.92[ASN][1000 genomes]
rs372108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs372150	0.93[ASN][1000 genomes]
rs374659	0.93[ASN][1000 genomes]
rs3747091	1.00[AFR][1000 genomes]
rs379591	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs384262	0.81[ASN][1000 genomes]
rs384422	0.87[ASN][1000 genomes]
rs388113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs391324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs395006	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs402225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs402548	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs403865	0.85[ASN][1000 genomes]
rs409153	0.84[ASN][1000 genomes]
rs409796	0.96[ASN][1000 genomes]
rs412596	0.91[ASN][1000 genomes]
rs416661	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs425046	0.85[AMR][1000 genomes]
rs428595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429623	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs433704	0.81[ASN][1000 genomes]
rs436570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs443845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447001	0.80[ASN][1000 genomes]
rs451422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs452649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs459265	1.00[AFR][1000 genomes]
rs5754787	0.87[AMR][1000 genomes]
rs57965798	1.00[AFR][1000 genomes]
rs710169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710170	1.00[AMR][1000 genomes]
rs710173	0.87[AMR][1000 genomes]
rs71314788	1.00[AFR][1000 genomes]
rs861815	1.00[AMR][1000 genomes]
rs861819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs861822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9609947	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers 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 lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22019800-22021600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr22:22019800-22021600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:22020000-22021600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:22020000-22021600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:22020200-22021600	Active TSS	Fetal Intestine Small	intestine
6	chr22:22020200-22021600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr22:22020200-22021800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:22020200-22022000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:22021000-22021800	Enhancers	Lung	lung
10	chr22:22021000-22021800	Flanking Active TSS	Dnd41	blood
11	chr22:22021000-22023600	Weak transcription	Spleen	Spleen
12	chr22:22021200-22021600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:22021200-22021800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr22:22021200-22021800	Enhancers	Left Ventricle	heart
15	chr22:22021200-22021800	Flanking Active TSS	HepG2	liver
16	chr22:22021200-22021800	Flanking Active TSS	K562	blood
17	chr22:22021200-22022000	Enhancers	Fetal Brain Male	brain
18	chr22:22021200-22022600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr22:22021200-22023800	Weak transcription	Ovary	ovary
20	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
22	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr22:22021400-22021600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr22:22021400-22021600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr22:22021400-22021600	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr22:22021400-22021600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:22021400-22021600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:22021400-22021600	Enhancers	Colon Smooth Muscle	Colon
29	chr22:22021400-22021600	Enhancers	Fetal Lung	lung
30	chr22:22021400-22021600	Enhancers	Fetal Muscle Leg	muscle
31	chr22:22021400-22021600	Enhancers	Fetal Thymus	thymus
32	chr22:22021400-22021600	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr22:22021400-22021800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr22:22021400-22021800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr22:22021400-22021800	Enhancers	Primary hematopoietic stem cells	blood
36	chr22:22021400-22021800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr22:22021400-22021800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:22021400-22021800	Enhancers	Adipose Nuclei	Adipose
39	chr22:22021400-22021800	Enhancers	Duodenum Mucosa	Duodenum
40	chr22:22021400-22021800	Enhancers	Fetal Muscle Trunk	muscle
41	chr22:22021400-22021800	Enhancers	Pancreas	Pancrea
42	chr22:22021400-22021800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr22:22021400-22021800	Active TSS	Stomach Smooth Muscle	stomach
44	chr22:22021400-22021800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr22:22021400-22022000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:22021400-22022000	Enhancers	Primary B cells from cord blood	blood
47	chr22:22021400-22022000	Enhancers	Primary T cells from cord blood	blood
48	chr22:22021400-22022000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr22:22021400-22022000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr22:22021400-22022000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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