Variant report

Variant	rs16988410
Chromosome Location	chr22:30617585-30617586
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16988402	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2078856	0.97[ASN][1000 genomes]
rs67087719	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30605600-30622600	Weak transcription	Right Atrium	heart
2	chr22:30609800-30617800	Weak transcription	Esophagus	oesophagus
3	chr22:30611200-30624800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:30614400-30619200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr22:30614400-30619200	Weak transcription	NH-A	brain
6	chr22:30614400-30624800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr22:30614600-30619200	Weak transcription	Osteobl	bone
8	chr22:30614600-30620000	Weak transcription	HSMMtube	muscle
9	chr22:30614600-30620400	Weak transcription	NHLF	lung
10	chr22:30615400-30619200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:30615400-30619600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:30615400-30626000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:30615600-30619200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr22:30615600-30619600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:30615600-30619600	Weak transcription	HMEC	breast
16	chr22:30615600-30627000	Weak transcription	K562	blood
17	chr22:30615800-30620200	Enhancers	Fetal Thymus	thymus
18	chr22:30616000-30621000	Enhancers	Primary B cells from cord blood	blood
19	chr22:30616200-30617600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr22:30616200-30618000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:30616200-30618200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:30616200-30618600	Enhancers	Primary B cells from peripheral blood	blood
23	chr22:30616400-30617600	Enhancers	GM12878-XiMat	blood
24	chr22:30616400-30617800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:30616400-30617800	Enhancers	Thymus	Thymus
26	chr22:30616600-30617600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr22:30616600-30618000	Enhancers	Spleen	Spleen
28	chr22:30616600-30618000	Flanking Active TSS	Dnd41	blood
29	chr22:30616800-30617600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr22:30616800-30617600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr22:30616800-30617800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:30617000-30617600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
33	chr22:30617000-30617600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr22:30617000-30617600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:30617000-30617600	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr22:30617000-30617800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
37	chr22:30617000-30618200	Enhancers	Small Intestine	intestine
38	chr22:30617200-30617800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr22:30617200-30618200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr22:30617200-30618200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr22:30617200-30618200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr22:30617200-30618600	Weak transcription	A549	lung
43	chr22:30617400-30617600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:30617400-30618000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr22:30617400-30618400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr22:30617400-30619600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr22:30617400-30620400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr22:30617400-30621800	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr22:30617400-30624000	Enhancers	Primary T cells fromperipheralblood	blood

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