Variant report

Variant	rs5999452
Chromosome Location	chr22:22129724-22129725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22127790..22129989-chr22:22156925..22159029,2	K562	blood:
2	chr22:22129101..22130763-chr22:22220420..22222313,2	K562	blood:
3	chr22:22128103..22132629-chr22:22289657..22294176,6	K562	blood:
4	chr22:22128700..22129747-chr22:22292035..22293557,11	MCF-7	breast:
5	chr22:22129393..22132158-chr22:22299862..22301892,2	K562	blood:
6	chr22:22129393..22130914-chr22:22299587..22301892,2	K562	blood:

Variant related genes	Relation type
ENSG00000224086	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs171254	1.00[EUR][1000 genomes]
rs171276	1.00[EUR][1000 genomes]
rs238779	1.00[EUR][1000 genomes]
rs238780	1.00[EUR][1000 genomes]
rs240050	1.00[EUR][1000 genomes]
rs240052	1.00[EUR][1000 genomes]
rs240059	1.00[EUR][1000 genomes]
rs240063	1.00[EUR][1000 genomes]
rs240617	1.00[EUR][1000 genomes]
rs240618	1.00[EUR][1000 genomes]
rs240620	1.00[EUR][1000 genomes]
rs3810607	1.00[EUR][1000 genomes]
rs389929	1.00[EUR][1000 genomes]
rs462496	1.00[EUR][1000 genomes]
rs55710707	1.00[EUR][1000 genomes]
rs56031527	1.00[EUR][1000 genomes]
rs57001004	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57416050	1.00[EUR][1000 genomes]
rs57468132	1.00[EUR][1000 genomes]
rs57891800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58541082	1.00[EUR][1000 genomes]
rs59312009	1.00[EUR][1000 genomes]
rs59378807	1.00[EUR][1000 genomes]
rs5999614	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999704	0.89[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999785	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999880	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999887	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999891	0.81[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60142295	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60882067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61162606	1.00[EUR][1000 genomes]
rs61336350	1.00[EUR][1000 genomes]
rs61757985	1.00[EUR][1000 genomes]
rs6518997	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6519019	1.00[EUR][1000 genomes]
rs7284924	0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286970	1.00[EUR][1000 genomes]
rs73386262	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386274	1.00[EUR][1000 genomes]
rs73388136	1.00[EUR][1000 genomes]
rs73388154	1.00[EUR][1000 genomes]
rs73877678	1.00[EUR][1000 genomes]
rs743533	1.00[EUR][1000 genomes]
rs8136902	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138018	1.00[EUR][1000 genomes]
rs8139215	0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription 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	16 gene(s)	inside rSNPs	diseases
13	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic 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 target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22112400-22136800	Strong transcription	Dnd41	blood
3	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
4	chr22:22113600-22133200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:22116000-22132800	Strong transcription	K562	blood
7	chr22:22117800-22129800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:22118800-22133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr22:22122200-22132200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr22:22123200-22133600	Strong transcription	Thymus	Thymus
12	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
13	chr22:22127000-22130800	Weak transcription	HMEC	breast
14	chr22:22127000-22139200	Weak transcription	Stomach Mucosa	stomach
15	chr22:22127200-22130400	Weak transcription	Lung	lung
16	chr22:22127200-22130800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr22:22127200-22133000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr22:22127200-22134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:22127200-22136200	Weak transcription	Pancreas	Pancrea
20	chr22:22127200-22138400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
22	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
24	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
26	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
27	chr22:22127400-22130400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr22:22127400-22130400	Weak transcription	NHLF	lung
29	chr22:22127400-22130600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr22:22127400-22130600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr22:22127400-22130800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr22:22127400-22130800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:22127400-22130800	Weak transcription	Liver	Liver
34	chr22:22127400-22130800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:22127400-22130800	Weak transcription	Fetal Lung	lung
36	chr22:22127400-22130800	Weak transcription	Left Ventricle	heart
37	chr22:22127400-22130800	Weak transcription	NHDF-Ad	bronchial
38	chr22:22127400-22131000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr22:22127400-22131000	Weak transcription	Spleen	Spleen
40	chr22:22127400-22131200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr22:22127400-22131200	Weak transcription	Placenta	Placenta
42	chr22:22127400-22131600	Weak transcription	NHEK	skin
43	chr22:22127400-22133000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:22127400-22133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr22:22127400-22134600	Weak transcription	Fetal Brain Male	brain
46	chr22:22127400-22137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:22127400-22137800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr22:22127400-22138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr22:22127400-22139000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr22:22127400-22141600	Weak transcription	Colonic Mucosa	Colon

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