Variant report

Variant	rs17745316
Chromosome Location	chr22:32446805-32446806
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32170492-32188129..22:32446418-32450601	K562	blood:
2	22:32012966-32043914..22:32446418-32450601	H1-hESC	embryonic stem cell:	embryo
3	22:31961151-31976153..22:32446418-32450601	Hela-S3	cervix:
4	22:32053085-32061138..22:32446418-32450601	K562	blood:
5	22:31864703-31891033..22:32446418-32450601	K562	blood:
6	22:32446418-32450601..22:32764253-32784733	K562	blood:
7	22:32162110-32166713..22:32446418-32450601	H1-hESC	embryonic stem cell:	embryo
8	chr22:32415638..32418353-chr22:32445361..32446986,2	K562	blood:

Variant related genes	Relation type
ENSG00000241954	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000232218	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10483162	1.00[AFR][1000 genomes]
rs10483163	1.00[AFR][1000 genomes]
rs1475996	1.00[AFR][1000 genomes]
rs1475997	1.00[AFR][1000 genomes]
rs1547411	1.00[AFR][1000 genomes]
rs17682583	1.00[AFR][1000 genomes]
rs17682819	1.00[AFR][1000 genomes]
rs17683011	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17683310	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17683430	1.00[AFR][1000 genomes]
rs17683448	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17683471	1.00[AFR][1000 genomes]
rs17683704	1.00[AFR][1000 genomes]
rs17744899	1.00[AFR][1000 genomes]
rs17744994	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17745543	1.00[AFR][1000 genomes]
rs1810414	1.00[AFR][1000 genomes]
rs2006867	1.00[AFR][1000 genomes]
rs2018440	1.00[AFR][1000 genomes]
rs2413063	1.00[AFR][1000 genomes]
rs2413064	1.00[AFR][1000 genomes]
rs2413065	1.00[AFR][1000 genomes]
rs2413066	1.00[AFR][1000 genomes]
rs2899173	1.00[AFR][1000 genomes]
rs2899174	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs33954001	1.00[AFR][1000 genomes]
rs33954397	1.00[AFR][1000 genomes]
rs41430344	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs4289286	1.00[AFR][1000 genomes]
rs45462396	1.00[AFR][1000 genomes]
rs45494991	1.00[AFR][1000 genomes]
rs4820058	1.00[AFR][1000 genomes]
rs4820060	1.00[AFR][1000 genomes]
rs4820061	1.00[AFR][1000 genomes]
rs4820062	1.00[AFR][1000 genomes]
rs4820067	1.00[AFR][1000 genomes]
rs4820068	1.00[AFR][1000 genomes]
rs4821001	1.00[AFR][1000 genomes]
rs4821002	1.00[AFR][1000 genomes]
rs4821003	1.00[AFR][1000 genomes]
rs4821005	1.00[AFR][1000 genomes]
rs4821006	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs4821010	1.00[AFR][1000 genomes]
rs4821012	1.00[AFR][1000 genomes]
rs4821013	1.00[AFR][1000 genomes]
rs4821015	1.00[AFR][1000 genomes]
rs4821016	1.00[AFR][1000 genomes]
rs4821018	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs4821020	1.00[AFR][1000 genomes]
rs4821021	1.00[AFR][1000 genomes]
rs4821022	1.00[AFR][1000 genomes]
rs4821023	1.00[AFR][1000 genomes]
rs4821024	1.00[AFR][1000 genomes]
rs4821025	1.00[AFR][1000 genomes]
rs4821027	1.00[AFR][1000 genomes]
rs4821028	1.00[AFR][1000 genomes]
rs4821029	1.00[AFR][1000 genomes]
rs4821030	1.00[AFR][1000 genomes]
rs4821031	1.00[AFR][1000 genomes]
rs4821036	1.00[AFR][1000 genomes]
rs4821037	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs55695217	1.00[AFR][1000 genomes]
rs55739336	1.00[AFR][1000 genomes]
rs56199077	1.00[AFR][1000 genomes]
rs62238974	1.00[AFR][1000 genomes]
rs62240588	1.00[AFR][1000 genomes]
rs733907	1.00[AFR][1000 genomes]
rs733908	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs73391051	1.00[AFR][1000 genomes]
rs734091	1.00[AFR][1000 genomes]
rs734092	1.00[AFR][1000 genomes]
rs743763	1.00[AFR][1000 genomes]
rs743764	1.00[AFR][1000 genomes]
rs976915	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs976916	1.00[AFR][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	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1059240	chr22:32362689-32462511	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv544678	chr22:32362689-32462511	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1060529	chr22:32370432-32525699	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv1063267	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv544679	chr22:32379851-32462650	Weak transcription Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv1067007	chr22:32400566-32452776	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv1065893	chr22:32400566-32453047	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	esv1803811	chr22:32441022-32509431	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32441200-32455200	Weak transcription	Gastric	stomach
2	chr22:32441800-32452800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr22:32442200-32468400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr22:32442200-32469200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:32442800-32460400	Weak transcription	Small Intestine	intestine
6	chr22:32443600-32449000	Genic enhancers	Fetal Intestine Small	intestine
7	chr22:32444400-32451400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:32444600-32447000	Weak transcription	Adipose Nuclei	Adipose
9	chr22:32445600-32447600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr22:32445600-32447600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr22:32445600-32449200	Genic enhancers	Fetal Intestine Large	intestine
12	chr22:32445800-32447600	Enhancers	Left Ventricle	heart
13	chr22:32445800-32449200	Enhancers	Stomach Mucosa	stomach
14	chr22:32446000-32447000	Enhancers	NHEK	skin
15	chr22:32446000-32447600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:32446000-32447800	Enhancers	Esophagus	oesophagus
17	chr22:32446000-32448000	Enhancers	Hela-S3	cervix
18	chr22:32446000-32448800	Genic enhancers	Duodenum Mucosa	Duodenum
19	chr22:32446200-32447200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:32446200-32447200	Enhancers	Right Atrium	heart
21	chr22:32446200-32447600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:32446200-32447600	Enhancers	K562	blood
23	chr22:32446200-32447800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr22:32446200-32448000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr22:32446200-32448000	Enhancers	HMEC	breast
26	chr22:32446200-32448600	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr22:32446400-32447200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr22:32446400-32447200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:32446400-32447200	Enhancers	Fetal Thymus	thymus
30	chr22:32446400-32447200	Enhancers	A549	lung
31	chr22:32446400-32447400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:32446400-32447400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr22:32446400-32447400	Enhancers	Osteobl	bone
34	chr22:32446400-32447600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:32446400-32447600	Enhancers	Placenta	Placenta
36	chr22:32446400-32448200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr22:32446400-32449200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr22:32446600-32447200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr22:32446600-32447200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr22:32446600-32447200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
41	chr22:32446600-32447200	Bivalent Enhancer	HSMMtube	muscle
42	chr22:32446600-32447200	Enhancers	NHDF-Ad	bronchial
43	chr22:32446600-32447400	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr22:32446600-32447400	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr22:32446600-32447600	Enhancers	GM12878-XiMat	blood
46	chr22:32446600-32447800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr22:32446600-32448000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr22:32446600-32448200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr22:32446800-32447000	Enhancers	Lung	lung
50	chr22:32446800-32447200	Enhancers	HUES64 Cell Line	embryonic stem cell

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