Variant report

Variant	rs412360
Chromosome Location	chr22:22019757-22019758
allele	A/C
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	PAX5	chr22:22019748-22020733	GM12878	blood:	n/a	chr22:22020537-22020546
2	PML	chr22:22019315-22021613	K562	blood:	n/a	n/a
3	POLR2A	chr22:22019314-22021408	K562	blood:	n/a	n/a
4	JUN	chr22:22018803-22021647	K562	blood:	n/a	chr22:22020621-22020630 chr22:22020620-22020633
5	CREB1	chr22:22019040-22021034	K562	blood:	n/a	chr22:22020619-22020632
6	NR2F2	chr22:22019146-22021633	K562	blood:	n/a	chr22:22020527-22020542
7	E2F6	chr22:22019449-22019833	H1-hESC	embryonic stem cell:	n/a	chr22:22019675-22019687
8	ETS1	chr22:22019203-22021581	K562	blood:	n/a	chr22:22020538-22020545 chr22:22020243-22020256 chr22:22020244-22020257
9	MAX	chr22:22019191-22021609	K562	blood:	n/a	n/a
10	POLR2A	chr22:22019510-22021150	HepG2	liver:	n/a	n/a
11	NR2F2	chr22:22019188-22022102	K562	blood:	n/a	chr22:22020527-22020542
12	POLR2A	chr22:22019492-22021362	K562	blood:	n/a	n/a
13	POLR2A	chr22:22019521-22020960	K562	blood:	n/a	n/a
14	ATF3	chr22:22019337-22020877	K562	blood:	n/a	chr22:22020619-22020629 chr22:22020619-22020629 chr22:22020618-22020633 chr22:22020618-22020629 chr22:22020619-22020632 chr22:22020622-22020629 chr22:22020620-22020633 chr22:22020622-22020632 chr22:22020619-22020630 chr22:22020621-22020641 chr22:22020610-22020630 chr22:22020620-22020631 chr22:22020619-22020632 chr22:22020618-22020631 chr22:22020620-22020631 chr22:22020621-22020629
15	POLR2A	chr22:22019579-22020887	K562	blood:	n/a	n/a
16	TAF1	chr22:22019675-22020893	K562	blood:	n/a	n/a
17	ZNF263	chr22:22019544-22020837	K562	blood:	n/a	n/a
18	GABPA	chr22:22019733-22020888	K562	blood:	n/a	n/a
19	CEBPB	chr22:22019717-22020964	K562	blood:	n/a	n/a
20	ZNF263	chr22:22019578-22020832	HEK293-T-REx	kidney:	n/a	n/a
21	STAT5A	chr22:22019169-22019758	K562	blood:	n/a	chr22:22019681-22019693
22	POLR2A	chr22:22019427-22021471	K562	blood:	n/a	n/a
23	POLR2A	chr22:22019734-22019785	MCF-7	breast:	n/a	n/a
24	HEY1	chr22:22019473-22020954	K562	blood:	n/a	chr22:22020622-22020631 chr22:22020593-22020608 chr22:22020634-22020649 chr22:22020620-22020629
25	GABPA	chr22:22019600-22021134	MCF-7	breast:	n/a	n/a
26	HMGN3	chr22:22019519-22021140	K562	blood:	n/a	n/a
27	YY1	chr22:22019373-22021409	K562	blood:	n/a	n/a
28	HDAC2	chr22:22019214-22021561	K562	blood:	n/a	n/a
29	SETDB1	chr22:22019461-22020746	K562	blood:	n/a	chr22:22020243-22020267
30	TBL1XR1	chr22:22019407-22019759	K562	blood:	n/a	n/a
31	E2F6	chr22:22019386-22020000	K562	blood:	n/a	chr22:22019675-22019687
32	HCFC1	chr22:22019268-22020950	Hela-S3	cervix:	n/a	n/a
33	TEAD4	chr22:22019154-22021566	K562	blood:	n/a	n/a
34	CBX3	chr22:22019454-22021548	K562	blood:	n/a	n/a
35	TBP	chr22:22019623-22020934	K562	blood:	n/a	n/a
36	POLR2A	chr22:22019379-22019820	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr22:22019512-22021387	K562	blood:	n/a	n/a
38	E2F4	chr22:22019521-22020834	K562	blood:	n/a	chr22:22020620-22020629 chr22:22019675-22019687 chr22:22020263-22020273 chr22:22020622-22020631
39	ELF1	chr22:22019217-22020960	K562	blood:	n/a	chr22:22020544-22020553
40	STAT5A	chr22:22019223-22021575	K562	blood:	n/a	chr22:22019681-22019693
41	POLR2A	chr22:22019571-22020893	HepG2	liver:	n/a	n/a
42	HCFC1	chr22:22019462-22020873	K562	blood:	n/a	n/a
43	THAP1	chr22:22019403-22020935	K562	blood:	n/a	n/a
44	WRNIP1	chr22:22019727-22020784	GM12878	blood:	n/a	n/a
45	TRIM28	chr22:22019223-22022009	K562	blood:	n/a	n/a
46	CEBPD	chr22:22019516-22020992	K562	blood:	n/a	n/a
47	TEAD4	chr22:22019378-22021529	K562	blood:	n/a	n/a
48	ZBTB7A	chr22:22019366-22020867	K562	blood:	n/a	n/a
49	POLR2A	chr22:22019682-22020877	K562	blood:	n/a	n/a
50	GABPA	chr22:22019248-22021236	K562	blood:	n/a	n/a

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	chr22:22019023..22020752-chr22:22089369..22093678,3	K562	blood:
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	chr22:21995515..21997247-chr22:22018437..22020828,2	MCF-7	breast:
8	chr22:22003932..22007330-chr22:22018565..22021264,4	MCF-7	breast:
9	chr22:22019700..22022032-chr22:22088092..22090057,3	MCF-7	breast:
10	chr17:56707677..56709326-chr22:22019309..22021417,2	MCF-7	breast:
11	chr22:21355013..21358028-chr22:22019128..22023299,3	K562	blood:
12	chr22:21982535..21985245-chr22:22018115..22021988,3	MCF-7	breast:
13	chr22:21355013..21357927-chr22:22018389..22021827,3	K562	blood:
14	chr22:22018198..22021286-chr22:22305755..22308523,3	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000212102	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000161179	Chromatin interaction
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs108815	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12484060	0.81[AMR][1000 genomes]
rs369463	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs370039	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs396913	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs397422	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs436496	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs450129	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs452614	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs5999098	0.80[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	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22007600-22019800	Weak transcription	Fetal Heart	heart
2	chr22:22012800-22019800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr22:22013000-22019800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr22:22013000-22019800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr22:22019400-22019800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr22:22019400-22019800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr22:22019400-22019800	Enhancers	HMEC	breast
8	chr22:22019400-22020000	Enhancers	Placenta	Placenta
9	chr22:22019400-22020000	Strong transcription	Right Atrium	heart
10	chr22:22019400-22020200	Enhancers	Spleen	Spleen
11	chr22:22019600-22019800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:22019600-22019800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:22019600-22019800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:22019600-22019800	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr22:22019600-22019800	Weak transcription	Primary B cells from cord blood	blood
16	chr22:22019600-22019800	Enhancers	Primary B cells from peripheral blood	blood
17	chr22:22019600-22019800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr22:22019600-22019800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr22:22019600-22019800	Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr22:22019600-22019800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr22:22019600-22019800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr22:22019600-22019800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:22019600-22019800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:22019600-22019800	Enhancers	Adipose Nuclei	Adipose
25	chr22:22019600-22019800	Active TSS	Liver	Liver
26	chr22:22019600-22019800	Enhancers	Duodenum Mucosa	Duodenum
27	chr22:22019600-22019800	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr22:22019600-22019800	Enhancers	Fetal Muscle Trunk	muscle
29	chr22:22019600-22019800	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr22:22019600-22019800	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr22:22019600-22019800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:22019600-22019800	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr22:22019600-22019800	Enhancers	GM12878-XiMat	blood
34	chr22:22019600-22019800	Enhancers	HepG2	liver
35	chr22:22019600-22019800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr22:22019600-22020000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:22019600-22020000	Enhancers	Primary T cells fromperipheralblood	blood
38	chr22:22019600-22020000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:22019600-22020000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr22:22019600-22020000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr22:22019600-22020000	Enhancers	Fetal Muscle Leg	muscle
42	chr22:22019600-22020000	Enhancers	Fetal Thymus	thymus
43	chr22:22019600-22020000	Enhancers	Gastric	stomach
44	chr22:22019600-22020000	Enhancers	Left Ventricle	heart
45	chr22:22019600-22020000	Enhancers	Lung	lung
46	chr22:22019600-22020000	Enhancers	Pancreas	Pancrea
47	chr22:22019600-22020000	Enhancers	Thymus	Thymus
48	chr22:22019600-22020000	Flanking Active TSS	Hela-S3	cervix
49	chr22:22019600-22020000	Enhancers	HUVEC	blood vessel
50	chr22:22019600-22020200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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