Variant report

Variant	rs16988421
Chromosome Location	chr22:30621592-30621593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30619180..30621137-chr22:30621578..30624236,2	K562	blood:
2	chr22:30621068..30623643-chr22:30626856..30629592,2	K562	blood:
3	chr22:30619504..30622995-chr22:30623297..30627180,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12166309	1.00[EUR][1000 genomes]
rs12169153	1.00[EUR][1000 genomes]
rs16988425	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56897799	1.00[EUR][1000 genomes]
rs5997599	1.00[EUR][1000 genomes]
rs6006413	1.00[EUR][1000 genomes]
rs6006417	1.00[EUR][1000 genomes]
rs60836642	1.00[EUR][1000 genomes]
rs61732271	1.00[EUR][1000 genomes]
rs7286437	1.00[EUR][1000 genomes]
rs7291157	1.00[EUR][1000 genomes]
rs73404536	1.00[AMR][1000 genomes]
rs73404556	1.00[EUR][1000 genomes]
rs73881424	1.00[EUR][1000 genomes]
rs73883356	1.00[EUR][1000 genomes]
rs8142884	1.00[EUR][1000 genomes]
rs9620975	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv834173	chr22:30515092-30658277	Enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv432239	chr22:30580161-30669883	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv914968	chr22:30610570-30693581	Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv914969	chr22:30619599-30691631	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
2	chr22:30611200-30624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30614400-30624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30615400-30626000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr22:30615600-30627000	Weak transcription	K562	blood
6	chr22:30617400-30621800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr22:30617400-30624000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr22:30617600-30622000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:30617800-30621800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:30618000-30622600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:30618000-30623600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:30618000-30625000	Weak transcription	Esophagus	oesophagus
13	chr22:30618200-30623600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:30618600-30622800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr22:30619000-30622200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr22:30619200-30622000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:30619200-30625600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr22:30619600-30622400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:30619600-30625800	Enhancers	HMEC	breast
20	chr22:30619800-30622800	Weak transcription	Spleen	Spleen
21	chr22:30619800-30625600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:30620000-30622200	Enhancers	NHEK	skin
23	chr22:30620000-30625600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:30620200-30623600	Weak transcription	Fetal Thymus	thymus
25	chr22:30620400-30621800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:30620600-30622200	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr22:30620600-30622400	Enhancers	Dnd41	blood
28	chr22:30620600-30623600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr22:30620600-30624000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr22:30620600-30624600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:30620600-30624800	Enhancers	Hela-S3	cervix
32	chr22:30620800-30622400	Enhancers	A549	lung
33	chr22:30620800-30624200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr22:30620800-30624600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr22:30620800-30624800	Weak transcription	Placenta	Placenta
36	chr22:30620800-30624800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr22:30621000-30621600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr22:30621000-30622200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr22:30621000-30622200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr22:30621000-30622200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:30621000-30623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr22:30621000-30624600	Weak transcription	Osteobl	bone
43	chr22:30621200-30622000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr22:30621200-30622200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:30621200-30622400	Weak transcription	NH-A	brain
46	chr22:30621400-30621800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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