Variant report

Variant	rs561518433
Chromosome Location	chr22:21985647-21985648
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr22:21984877-21986003	K562	blood:	n/a	n/a
2	TEAD4	chr22:21977696-21986166	K562	blood:	n/a	n/a
3	MAFF	chr22:21984913-21986092	K562	blood:	n/a	n/a
4	STAT5A	chr22:21983131-21986060	K562	blood:	n/a	chr22:21985195-21985206
5	HDAC2	chr22:21985210-21986165	K562	blood:	n/a	n/a
6	BACH1	chr22:21984874-21985741	K562	blood:	n/a	n/a
7	CBX3	chr22:21982035-21985920	K562	blood:	n/a	chr22:21985726-21985737
8	POLR2A	chr22:21985224-21985699	MCF10A-Er-Src	breast:	n/a	n/a
9	JUN	chr22:21976109-21986271	K562	blood:	n/a	chr22:21983081-21983090
10	NR2F2	chr22:21977562-21986158	K562	blood:	n/a	n/a
11	PML	chr22:21976079-21986039	K562	blood:	n/a	n/a
12	STAT5A	chr22:21977034-21985884	K562	blood:	n/a	chr22:21985195-21985206 chr22:21979662-21979669 chr22:21981631-21981643 chr22:21978473-21978481
13	POLR2A	chr22:21985516-21985668	Hela-S3	cervix:	n/a	n/a
14	TBL1XR1	chr22:21984884-21986033	K562	blood:	n/a	n/a
15	TRIM28	chr22:21977375-21986097	K562	blood:	n/a	n/a
16	CEBPD	chr22:21976351-21985845	K562	blood:	n/a	chr22:21979266-21979277
17	KAP1	chr22:21983267-21986085	K562	blood:	n/a	n/a
18	CBX3	chr22:21981931-21988144	K562	blood:	n/a	chr22:21985726-21985737
19	NR2F2	chr22:21980471-21986172	K562	blood:	n/a	n/a
20	POLR2A	chr22:21985210-21985833	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21985646-21985696	NT2-D1	testis:	n/a
2	chr22:21985646-21985696	LNCaP	prostate:	n/a
3	chr22:21985646-21985696	HNPCEpiC	eye:	n/a
4	chr22:21985646-21985696	PrEC	prostate:	n/a
5	chr22:21985646-21985696	GM19239	blood:	n/a
6	chr22:21985646-21985696	Hela-S3	cervix:	n/a
7	chr22:21985646-21985696	GM12892	blood:	n/a
8	chr22:21985646-21985696	T-47D	breast:	n/a
9	chr22:21985646-21985696	HRCEpiC	kidney:	n/a
10	chr22:21985646-21985696	HCT-116	colon:	n/a
11	chr22:21985646-21985696	NB4	blood:	n/a
12	chr22:21985646-21985696	HEK293	kidney:	embryo
13	chr22:21985646-21985696	HIPEpiC	eye:	n/a
14	chr22:21985646-21985696	SK-N-SH	brain:	n/a
15	chr22:21985646-21985696	AG09309	skin:	n/a
16	chr22:21985646-21985696	Jurkat	blood:	n/a
17	chr22:21985646-21985696	Hepatocyte	liver:	n/a
18	chr22:21985646-21985696	HCM	heart:	n/a
19	chr22:21985646-21985696	HL-60	blood:	n/a
20	chr22:21985646-21985696	AG04450	lung:	fetal
21	chr22:21985646-21985696	GM12878	blood:	n/a
22	chr22:21985646-21985696	HCF	heart:	n/a
23	chr22:21985646-21985696	AG10803	skin:	n/a
24	chr22:21985646-21985696	HUVEC	blood vessel:	n/a
25	chr22:21985646-21985696	SAEC	small airway:	n/a
26	chr22:21985646-21985696	SKMC	muscle:	n/a
27	chr22:21985646-21985696	HCPEpiC	choroid plexus:	n/a
28	chr22:21985646-21985696	AoSMC	blood vessel:	n/a
29	chr22:21985646-21985696	IMR90	lung:	fetal
30	chr22:21985646-21985696	BJ	skin:	n/a
31	chr22:21985646-21985696	AG04449	skin:	fetal
32	chr22:21985646-21985696	BE2_C	brain:	n/a
33	chr22:21985646-21985696	NHDF-neo	bronchial:	n/a
34	chr22:21985646-21985696	ProgFib	skin:	n/a
35	chr22:21985646-21985696	AG09319	gingival:	n/a
36	chr22:21985646-21985696	HAEpiC	amniotic membrane:	n/a
37	chr22:21985646-21985696	A549	lung:	n/a
38	chr22:21985646-21985696	GM12891	blood:	n/a
39	chr22:21985646-21985696	K562	blood:	n/a
40	chr22:21985646-21985696	ECC-1	luminal epithelium:	n/a
41	chr22:21985646-21985696	HepG2	liver:	n/a
42	chr22:21985646-21985696	U87	brain:	n/a
43	chr22:21985646-21985696	NH-A	brain:	n/a
44	chr22:21985646-21985696	Caco-2	colon:	n/a
45	chr22:21985646-21985696	GM06990	blood:	n/a
46	chr22:21985646-21985696	HRPEpiC	eye:	n/a
47	chr22:21985646-21985696	SK-N-MC	brain:	n/a
48	chr22:21985646-21985696	MCF10A-Er-Src	breast:	n/a
49	chr22:21985646-21985696	HMEC	breast:	n/a
50	chr22:21985646-21985696	HRE	kidney:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21349434..21351895-chr22:21984547..21986903,2	K562	blood:
2	chr22:21982265..21985710-chr22:22005242..22008783,5	MCF-7	breast:
3	chr22:21983800..21985930-chr9:136215021..136217222,2	K562	blood:
4	chr22:21979187..21986650-chr22:21993296..22001177,21	MCF-7	breast:
5	chr22:21353932..21358932-chr22:21981928..21985927,5	K562	blood:
6	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
7	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:
8	chr22:21983948..21987333-chr22:22088191..22091412,3	K562	blood:
9	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
10	chr1:11968224..11970573-chr22:21982926..21985851,3	K562	blood:

No data

Variant related genes	Relation type
CCDC116	TF binding region
YDJC	TF binding region
CCDC116	CpG island
YDJC	CpG island
ENSG00000099949	Chromatin interaction
ENSG00000206611	Chromatin interaction
ENSG00000184436	Chromatin interaction
ENSG00000273342	Chromatin interaction
ENSG00000230513	Chromatin interaction
ENSG00000148303	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000200831	Chromatin interaction
ENSG00000185651	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100027	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers 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	374 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv516806	chr22:21982892-21997070	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv914469	chr22:21985094-22010918	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21984400-21986400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:21984400-21986600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:21984400-21986600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:21984400-21986600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:21984400-21986600	Weak transcription	Placenta	Placenta
6	chr22:21984400-21986800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:21984400-21986800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr22:21984400-21987000	Weak transcription	Lung	lung
9	chr22:21984400-21987400	Weak transcription	HMEC	breast
10	chr22:21984400-21987600	Weak transcription	Fetal Stomach	stomach
11	chr22:21984400-21989800	Weak transcription	Right Ventricle	heart
12	chr22:21984400-21991000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:21984400-21993000	Weak transcription	Fetal Muscle Leg	muscle
14	chr22:21984400-21995200	Weak transcription	Fetal Intestine Small	intestine
15	chr22:21984400-21995600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:21984400-21995600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr22:21984400-21995600	Weak transcription	Esophagus	oesophagus
18	chr22:21984400-21995600	Weak transcription	Gastric	stomach
19	chr22:21984400-21995800	Weak transcription	Spleen	Spleen
20	chr22:21984400-21996000	Weak transcription	Aorta	Aorta
21	chr22:21984400-21996200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:21984600-21986400	Enhancers	Dnd41	blood
23	chr22:21984600-21986600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr22:21984600-21986600	Weak transcription	Thymus	Thymus
25	chr22:21984600-21987200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr22:21984600-21987400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:21984600-21991000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr22:21984600-21995200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr22:21984600-21995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:21984600-21995400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr22:21984600-21995600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:21984800-21986600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr22:21984800-21986600	Weak transcription	Fetal Thymus	thymus
34	chr22:21984800-21987600	Weak transcription	NHEK	skin
35	chr22:21984800-21995400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:21985000-21985800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr22:21985000-21986600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr22:21985000-21986600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:21985000-21986600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr22:21985000-21986600	Weak transcription	HepG2	liver
41	chr22:21985000-21986800	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:21985000-21986800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:21985000-21987000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr22:21985000-21995200	Weak transcription	GM12878-XiMat	blood
45	chr22:21985200-21986600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr22:21985400-21986400	Enhancers	K562	blood
47	chr22:21985600-21986000	Weak transcription	Right Atrium	heart

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