Variant report

Variant	rs403642
Chromosome Location	chr22:22020968-22020969
allele	A/G
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr22:22003932..22007330-chr22:22018565..22021264,4	MCF-7	breast:
8	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
9	chr17:56707677..56709326-chr22:22019309..22021417,2	MCF-7	breast:
10	chr22:21355013..21358028-chr22:22019128..22023299,3	K562	blood:
11	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
12	chr22:22020489..22021351-chr22:22306832..22307701,2	K562	blood:
13	chr22:21355013..21357927-chr22:22018389..22021827,3	K562	blood:
14	chr22:22018198..22021286-chr22:22305755..22308523,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100027	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000212102	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1045681	0.80[EUR][1000 genomes]
rs1210397	0.84[ASN][1000 genomes]
rs1860	0.85[EUR][1000 genomes]
rs2070504	0.80[EUR][1000 genomes]
rs373001	0.94[ASN][1000 genomes]
rs3747095	0.80[EUR][1000 genomes]
rs3788329	0.81[EUR][1000 genomes]
rs384262	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs388371	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs433704	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs439760	0.91[ASN][1000 genomes]
rs446142	0.87[ASN][1000 genomes]
rs449597	0.91[ASN][1000 genomes]
rs450469	0.95[ASN][1000 genomes]
rs710172	0.85[EUR][1000 genomes]
rs7285388	0.80[EUR][1000 genomes]
rs861836	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22019600-22021400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr22:22019800-22021000	Active TSS	Fetal Brain Female	brain
3	chr22:22019800-22021200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:22019800-22021200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:22019800-22021200	Active TSS	Brain Substantia Nigra	brain
6	chr22:22019800-22021200	Active TSS	HSMM	muscle
7	chr22:22019800-22021200	Active TSS	NHEK	skin
8	chr22:22019800-22021400	Active TSS	H9 Cell Line	embryonic stem cell
9	chr22:22019800-22021400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:22019800-22021400	Active TSS	Colonic Mucosa	Colon
11	chr22:22019800-22021400	Active TSS	Fetal Kidney	kidney
12	chr22:22019800-22021400	Active TSS	A549	lung
13	chr22:22019800-22021400	Active TSS	HSMMtube	muscle
14	chr22:22019800-22021600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr22:22019800-22021600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:22020000-22021000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:22020000-22021000	Active TSS	Primary B cells from cord blood	blood
18	chr22:22020000-22021000	Active TSS	Primary T cells from cord blood	blood
19	chr22:22020000-22021000	Active TSS	Fetal Heart	heart
20	chr22:22020000-22021000	Active TSS	Lung	lung
21	chr22:22020000-22021000	Active TSS	Small Intestine	intestine
22	chr22:22020000-22021000	Active TSS	Osteobl	bone
23	chr22:22020000-22021200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr22:22020000-22021200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:22020000-22021200	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr22:22020000-22021200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:22020000-22021200	Active TSS	Aorta	Aorta
28	chr22:22020000-22021200	Active TSS	Brain Angular Gyrus	brain
29	chr22:22020000-22021200	Active TSS	Brain Anterior Caudate	brain
30	chr22:22020000-22021200	Active TSS	Brain Cingulate Gyrus	brain
31	chr22:22020000-22021200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr22:22020000-22021200	Active TSS	Colon Smooth Muscle	Colon
33	chr22:22020000-22021200	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr22:22020000-22021200	Active TSS	Esophagus	oesophagus
35	chr22:22020000-22021200	Active TSS	Left Ventricle	heart
36	chr22:22020000-22021200	Active TSS	Psoas Muscle	Psoas
37	chr22:22020000-22021200	Active TSS	Rectal Smooth Muscle	rectum
38	chr22:22020000-22021200	Active TSS	GM12878-XiMat	blood
39	chr22:22020000-22021200	Active TSS	Hela-S3	cervix
40	chr22:22020000-22021200	Active TSS	NH-A	brain
41	chr22:22020000-22021200	Active TSS	NHDF-Ad	bronchial
42	chr22:22020000-22021400	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr22:22020000-22021400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr22:22020000-22021400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr22:22020000-22021400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr22:22020000-22021400	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr22:22020000-22021400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr22:22020000-22021400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr22:22020000-22021400	Active TSS	Brain Germinal Matrix	brain
50	chr22:22020000-22021400	Active TSS	Pancreatic Islets	Pancreatic Islet

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