Variant report

Variant	rs2298430
Chromosome Location	chr22:22023942-22023943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFF	chr22:22023935-22024395	K562	blood:	n/a	chr22:22024106-22024124
2	MAFK	chr22:22023937-22024322	IMR90	lung:	n/a	chr22:22024108-22024123
3	MAFF	chr22:22023940-22024363	HepG2	liver:	n/a	chr22:22024106-22024124
4	MAFK	chr22:22023933-22024308	HepG2	liver:	n/a	chr22:22024108-22024123
5	MAFK	chr22:22023942-22024363	K562	blood:	n/a	chr22:22024108-22024123

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22019315..22021619-chr22:22023788..22025328,2	MCF-7	breast:
2	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000100023	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000224086	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1624238	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1647706	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1647707	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1647708	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647709	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1647712	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669114	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669115	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669117	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1669118	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1669120	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1669121	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1669125	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2247115	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2329827	0.82[EUR][1000 genomes]
rs2599424	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2845462	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2845464	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749643	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5749655	0.93[ASN][1000 genomes]
rs5754627	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5754659	0.93[ASN][1000 genomes]
rs5754789	0.83[EUR][1000 genomes]
rs5754790	0.83[EUR][1000 genomes]
rs762349	0.83[ASN][1000 genomes]
rs8137977	0.83[ASN][1000 genomes]
rs861830	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs861834	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
3	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:22021400-22024000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:22021400-22024000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:22021400-22024000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:22021400-22024000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr22:22021400-22024000	Weak transcription	HMEC	breast
9	chr22:22021400-22024000	Weak transcription	HSMM	muscle
10	chr22:22021400-22024000	Weak transcription	NHEK	skin
11	chr22:22021400-22024200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr22:22021400-22024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:22021400-22024200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:22021400-22024200	Weak transcription	Liver	Liver
15	chr22:22021400-22024200	Weak transcription	Brain Angular Gyrus	brain
16	chr22:22021400-22024200	Weak transcription	Brain Anterior Caudate	brain
17	chr22:22021400-22024200	Weak transcription	Brain Hippocampus Middle	brain
18	chr22:22021400-22024200	Weak transcription	HSMMtube	muscle
19	chr22:22021400-22024200	Weak transcription	HUVEC	blood vessel
20	chr22:22021400-22024200	Weak transcription	NHLF	lung
21	chr22:22021400-22024600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr22:22021400-22024600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr22:22021400-22024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr22:22021400-22024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr22:22021400-22024800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr22:22021400-22024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:22021400-22024800	Weak transcription	Fetal Brain Female	brain
28	chr22:22021400-22024800	Weak transcription	Fetal Heart	heart
29	chr22:22021400-22024800	Weak transcription	Right Atrium	heart
30	chr22:22021400-22024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr22:22021400-22024800	Weak transcription	NH-A	brain
32	chr22:22021400-22024800	Weak transcription	NHDF-Ad	bronchial
33	chr22:22021400-22024800	Weak transcription	Osteobl	bone
34	chr22:22021400-22025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr22:22021400-22025000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr22:22021400-22025000	Weak transcription	Colonic Mucosa	Colon
37	chr22:22021400-22025000	Weak transcription	Gastric	stomach
38	chr22:22021400-22025000	Weak transcription	Right Ventricle	heart
39	chr22:22021400-22025000	Weak transcription	Small Intestine	intestine
40	chr22:22021400-22025200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:22021400-22025400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:22021400-22025400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr22:22021400-22025600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr22:22021400-22026200	Weak transcription	Fetal Kidney	kidney
45	chr22:22021400-22026400	Weak transcription	Psoas Muscle	Psoas
46	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
48	chr22:22021400-22036600	Weak transcription	A549	lung
49	chr22:22021600-22024000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr22:22021600-22024200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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