Variant report

Variant	rs559504725
Chromosome Location	chr22:30783801-30783802
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	CTCF	chr22:30783203-30783834	K562	blood:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
2	CTCF	chr22:30783387-30783824	GM10248	blood:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
3	SMC3	chr22:30782783-30784052	SK-N-SH	brain:	n/a	chr22:30783491-30783501 chr22:30783823-30783833 chr22:30783491-30783505 chr22:30783819-30783833 chr22:30783715-30783722 chr22:30783498-30783505
4	CTCF	chr22:30783759-30783816	K562	blood:	n/a	n/a
5	CTCF	chr22:30783324-30783896	MCF-7	breast:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
6	CTCF	chr22:30783762-30783831	GM13976	blood:	n/a	n/a
7	CTCF	chr22:30782889-30783802	IMR90	lung:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
8	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
9	CTCF	chr22:30782323-30784026	SK-N-SH	brain:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
10	CTCF	chr22:30783726-30783840	GM12892	blood:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
11	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a
12	CTCF	chr22:30783739-30783834	GM12878	blood:	n/a	chr22:30783820-30783833
13	CHD1	chr22:30782441-30783911	IMR90	lung:	n/a	n/a
14	CTCF	chr22:30783367-30783846	GM12891	blood:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
15	CTCF	chr22:30783315-30783842	Spleen_OC	spleen:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
16	CTCF	chr22:30783363-30784017	HCT-116	colon:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
17	ZBTB7A	chr22:30782702-30783954	ECC-1	luminal epithelium:	n/a	chr22:30783490-30783499
18	CTCF	chr22:30783735-30783853	GM19238	blood:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
19	CTCF	chr22:30783382-30783847	GM10266	blood:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
20	TAF1	chr22:30783385-30783815	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr22:30783353-30783839	GM19240	blood:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
22	RAD21	chr22:30783261-30783896	SK-N-SH	brain:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
23	ZBTB7A	chr22:30782691-30783970	ECC-1	luminal epithelium:	n/a	chr22:30783490-30783499
24	HCFC1	chr22:30782469-30783847	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr22:30782756-30783952	A549	lung:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
26	RAD21	chr22:30783225-30783955	HCT-116	colon:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
27	RAD21	chr22:30783206-30783868	ECC-1	luminal epithelium:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
28	CTCF	chr22:30783700-30783850	GM12870	blood:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
29	RAD21	chr22:30783201-30783892	HCT-116	colon:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
30	CTCF	chr22:30783750-30783844	Lung_OC	lung:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
31	ZBTB7A	chr22:30782830-30783919	K562	blood:	n/a	chr22:30783490-30783499
32	CTCF	chr22:30782921-30783844	GM12878	blood:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
33	CTCF	chr22:30783769-30783825	GM19239	blood:	n/a	n/a
34	ELF1	chr22:30783265-30783969	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30783793-30783843	HRE	kidney:	n/a
2	chr22:30783793-30783843	ECC-1	luminal epithelium:	n/a
3	chr22:30783793-30783843	NT2-D1	testis:	n/a
4	chr22:30783793-30783843	NHDF-neo	bronchial:	n/a
5	chr22:30783793-30783843	RPTEC	kidney:	n/a
6	chr22:30783793-30783843	AG04450	lung:	fetal
7	chr22:30783793-30783843	SKMC	muscle:	n/a
8	chr22:30783793-30783843	HUVEC	blood vessel:	n/a
9	chr22:30783793-30783843	HRPEpiC	eye:	n/a
10	chr22:30783793-30783843	AG09319	gingival:	n/a
11	chr22:30783793-30783843	U87	brain:	n/a
12	chr22:30783793-30783843	HepG2	liver:	n/a
13	chr22:30783793-30783843	BJ	skin:	n/a
14	chr22:30783793-30783843	NHBE	bronchial:	n/a
15	chr22:30783793-30783843	HCM	heart:	n/a
16	chr22:30783793-30783843	K562	blood:	n/a
17	chr22:30783793-30783843	HCPEpiC	choroid plexus:	n/a
18	chr22:30783793-30783843	Hepatocyte	liver:	n/a
19	chr22:30783793-30783843	ovcar-3	ovarian:	n/a
20	chr22:30783793-30783843	NB4	blood:	n/a
21	chr22:30783793-30783843	GM12891	blood:	n/a
22	chr22:30783793-30783843	AG09309	skin:	n/a
23	chr22:30783793-30783843	Jurkat	blood:	n/a
24	chr22:30783793-30783843	HCT-116	colon:	n/a
25	chr22:30783793-30783843	PANC-1	pancreas:	n/a
26	chr22:30783793-30783843	AG04449	skin:	fetal
27	chr22:30783793-30783843	HEK293	kidney:	embryo
28	chr22:30783793-30783843	BE2_C	brain:	n/a
29	chr22:30783793-30783843	PFSK-1	brain:	n/a
30	chr22:30783793-30783843	HCF	heart:	n/a
31	chr22:30783793-30783843	GM06990	blood:	n/a
32	chr22:30783793-30783843	Caco-2	colon:	n/a
33	chr22:30783793-30783843	SK-N-SH	brain:	n/a
34	chr22:30783793-30783843	LNCaP	prostate:	n/a
35	chr22:30783793-30783843	HNPCEpiC	eye:	n/a
36	chr22:30783793-30783843	ProgFib	skin:	n/a
37	chr22:30783793-30783843	HRCEpiC	kidney:	n/a
38	chr22:30783793-30783843	SAEC	small airway:	n/a
39	chr22:30783793-30783843	GM19239	blood:	n/a
40	chr22:30783793-30783843	AG10803	skin:	n/a
41	chr22:30783793-30783843	SK-N-SH_RA	brain:	n/a
42	chr22:30783793-30783843	T-47D	breast:	n/a
43	chr22:30783793-30783843	MCF10A-Er-Src	breast:	n/a
44	chr22:30783793-30783843	HEEpiC	esophagus:	n/a
45	chr22:30783793-30783843	GM12878	blood:	n/a
46	chr22:30783793-30783843	PrEC	prostate:	n/a
47	chr22:30783793-30783843	HIPEpiC	eye:	n/a
48	chr22:30783793-30783843	AoSMC	blood vessel:	n/a
49	chr22:30783793-30783843	NH-A	brain:	n/a
50	chr22:30783793-30783843	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
2	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
3	chr22:30751699..30753468-chr22:30782814..30784590,2	K562	blood:
4	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
5	chr22:30683553..30684657-chr22:30783449..30783965,3	K562	blood:
6	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
7	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
8	chr22:30683315..30684641-chr22:30783196..30784353,5	MCF-7	breast:
9	chr22:30783511..30785819-chr22:30839208..30841180,2	K562	blood:
10	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
11	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
12	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:
13	chr22:30683337..30684429-chr22:30783040..30783917,8	MCF-7	breast:

Variant related genes	Relation type
RNF215	TF binding region
RNF215	CpG island
ENSG00000099985	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000239282	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	esv3376959	chr22:30782102-30785000	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3374389	chr22:30782177-30784725	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30782200-30784000	Active TSS	H9 Cell Line	embryonic stem cell
2	chr22:30782800-30784000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr22:30782800-30784000	Active TSS	A549	lung
4	chr22:30782800-30784000	Active TSS	Hela-S3	cervix
5	chr22:30783000-30784000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr22:30783200-30784000	Enhancers	Fetal Thymus	thymus
7	chr22:30783200-30787000	Weak transcription	Primary B cells from cord blood	blood
8	chr22:30783400-30784000	Flanking Active TSS	Dnd41	blood
9	chr22:30783800-30784000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr22:30783800-30784000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:30783800-30784000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr22:30783800-30784000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:30783800-30784000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:30783800-30784000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr22:30783800-30784000	Enhancers	Fetal Muscle Leg	muscle
16	chr22:30783800-30784000	Enhancers	Ovary	ovary
17	chr22:30783800-30784000	Enhancers	HepG2	liver
18	chr22:30783800-30784000	Enhancers	HMEC	breast
19	chr22:30783800-30784400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr22:30783800-30785000	Enhancers	Placenta	Placenta
21	chr22:30783800-30786600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:30783800-30786600	Weak transcription	K562	blood
23	chr22:30783800-30786800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr22:30783800-30786800	Weak transcription	Colonic Mucosa	Colon
25	chr22:30783800-30787000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr22:30783800-30787000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr22:30783800-30787000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr22:30783800-30787000	Weak transcription	Brain Anterior Caudate	brain
29	chr22:30783800-30787000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:30783800-30787000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr22:30783800-30787000	Weak transcription	Brain Substantia Nigra	brain
32	chr22:30783800-30787000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:30783800-30787000	Weak transcription	HSMM	muscle
34	chr22:30783800-30787200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:30783800-30787200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:30783800-30787200	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:30783800-30787200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30783800-30787200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr22:30783800-30787200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr22:30783800-30787200	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:30783800-30787200	Weak transcription	Brain Hippocampus Middle	brain
42	chr22:30783800-30787200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr22:30783800-30787200	Weak transcription	NHDF-Ad	bronchial
44	chr22:30783800-30787200	Weak transcription	NHLF	lung
45	chr22:30783800-30787400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr22:30783800-30787400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr22:30783800-30787400	Weak transcription	Primary T cells from cord blood	blood
48	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr22:30783800-30787400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr22:30783800-30787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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