Variant report

Variant	rs533063170
Chromosome Location	chr22:30783743-30783744
allele	C/G
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	SIN3A	chr22:30782727-30783777	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr22:30783192-30783776	H1-hESC	embryonic stem cell:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
4	POLR2A	chr22:30783463-30783745	PFSK-1	brain:	n/a	n/a
5	TEAD4	chr22:30783399-30783774	H1-hESC	embryonic stem cell:	n/a	n/a
6	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
7	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
8	CREB1	chr22:30782930-30783780	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr22:30783724-30783746	ProgFib	skin:	n/a	n/a
10	SMC3	chr22:30783321-30783745	Hela-S3	cervix:	n/a	chr22:30783491-30783501 chr22:30783491-30783505 chr22:30783715-30783722 chr22:30783498-30783505
11	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
12	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
13	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
14	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
15	CTCF	chr22:30783726-30783840	GM12892	blood:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
16	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a
17	CTCF	chr22:30783739-30783834	GM12878	blood:	n/a	chr22:30783820-30783833
18	CHD1	chr22:30782441-30783911	IMR90	lung:	n/a	n/a
19	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
20	ZNF143	chr22:30783360-30783766	H1-hESC	embryonic stem cell:	n/a	n/a
21	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
22	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
23	MAX	chr22:30782805-30783783	A549	lung:	n/a	n/a
24	CTCF	chr22:30783302-30783746	A549	lung:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
25	ZBTB7A	chr22:30782702-30783954	ECC-1	luminal epithelium:	n/a	chr22:30783490-30783499
26	RAD21	chr22:30783224-30783755	H1-hESC	embryonic stem cell:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
27	CTCF	chr22:30783735-30783853	GM19238	blood:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
28	CHD2	chr22:30783438-30783751	H1-hESC	embryonic stem cell:	n/a	n/a
29	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
30	TAF1	chr22:30783385-30783815	H1-hESC	embryonic stem cell:	n/a	n/a
31	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
32	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
33	ZBTB7A	chr22:30782691-30783970	ECC-1	luminal epithelium:	n/a	chr22:30783490-30783499
34	CTCF	chr22:30783336-30783779	HCT-116	colon:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
35	HCFC1	chr22:30782469-30783847	Hela-S3	cervix:	n/a	n/a
36	FOXP2	chr22:30782964-30783799	PFSK-1	brain:	n/a	n/a
37	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
38	RUNX3	chr22:30783402-30783759	GM12878	blood:	n/a	n/a
39	RAD21	chr22:30783193-30783795	A549	lung:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
40	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
41	TBP	chr22:30783453-30783752	H1-hESC	embryonic stem cell:	n/a	n/a
42	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
43	CTCF	chr22:30783700-30783850	GM12870	blood:	n/a	chr22:30783820-30783833 chr22:30783817-30783835
44	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
45	CTCF	chr22:30783376-30783767	MCF-7	breast:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
46	ZBTB7A	chr22:30782830-30783919	K562	blood:	n/a	chr22:30783490-30783499
47	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
48	ELF1	chr22:30783265-30783969	GM12878	blood:	n/a	n/a
49	CTCF	chr22:30783686-30783787	Fibrobl	skin:	n/a	n/a
50	RAD21	chr22:30783273-30783800	MCF-7	breast:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30783737-30783787	NHDF-neo	bronchial:	n/a
2	chr22:30783737-30783787	ECC-1	luminal epithelium:	n/a
3	chr22:30783737-30783787	HCF	heart:	n/a
4	chr22:30783737-30783787	MCF-7	breast:	n/a
5	chr22:30783737-30783787	CMK	blood:	n/a
6	chr22:30783737-30783787	GM12891	blood:	n/a
7	chr22:30783737-30783787	ovcar-3	ovarian:	n/a
8	chr22:30783737-30783787	Jurkat	blood:	n/a
9	chr22:30783737-30783787	PANC-1	pancreas:	n/a
10	chr22:30783737-30783787	HCT-116	colon:	n/a
11	chr22:30783737-30783787	IMR90	lung:	fetal
12	chr22:30783737-30783787	BE2_C	brain:	n/a
13	chr22:30783737-30783787	SAEC	small airway:	n/a
14	chr22:30783737-30783787	H1-hESC	embryonic stem cell:	embryo
15	chr22:30783737-30783787	NHBE	bronchial:	n/a
16	chr22:30783737-30783787	HEEpiC	esophagus:	n/a
17	chr22:30783737-30783787	GM06990	blood:	n/a
18	chr22:30783737-30783787	K562	blood:	n/a
19	chr22:30783737-30783787	GM12878	blood:	n/a
20	chr22:30783737-30783787	NT2-D1	testis:	n/a
21	chr22:30783737-30783787	AG10803	skin:	n/a
22	chr22:30783737-30783787	RPTEC	kidney:	n/a
23	chr22:30783737-30783787	HepG2	liver:	n/a
24	chr22:30783737-30783787	LNCaP	prostate:	n/a
25	chr22:30783737-30783787	Caco-2	colon:	n/a
26	chr22:30783737-30783787	HPAEpiC	pulmonary alveolar:	n/a
27	chr22:30783737-30783787	SKMC	muscle:	n/a
28	chr22:30783737-30783787	HRCEpiC	kidney:	n/a
29	chr22:30783737-30783787	HIPEpiC	eye:	n/a
30	chr22:30783737-30783787	HMEC	breast:	n/a
31	chr22:30783737-30783787	SK-N-SH	brain:	n/a
32	chr22:30783737-30783787	HRE	kidney:	n/a
33	chr22:30783737-30783787	AG09309	skin:	n/a
34	chr22:30783737-30783787	AG04449	skin:	fetal
35	chr22:30783737-30783787	AoSMC	blood vessel:	n/a
36	chr22:30783737-30783787	U87	brain:	n/a
37	chr22:30783737-30783787	NB4	blood:	n/a
38	chr22:30783737-30783787	BJ	skin:	n/a
39	chr22:30783737-30783787	HUVEC	blood vessel:	n/a
40	chr22:30783737-30783787	Hepatocyte	liver:	n/a
41	chr22:30783737-30783787	HEK293	kidney:	embryo
42	chr22:30783737-30783787	HL-60	blood:	n/a
43	chr22:30783737-30783787	GM19239	blood:	n/a
44	chr22:30783737-30783787	SK-N-MC	brain:	n/a
45	chr22:30783737-30783787	ProgFib	skin:	n/a
46	chr22:30783737-30783787	HRPEpiC	eye:	n/a
47	chr22:30783737-30783787	PFSK-1	brain:	n/a
48	chr22:30783737-30783787	AG04450	lung:	fetal
49	chr22:30783737-30783787	PrEC	prostate:	n/a
50	chr22:30783737-30783787	A549	lung:	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
ENSG00000187860	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000100003	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30782200-30783800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr22:30782200-30784000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr22:30782400-30783800	Enhancers	Primary T cells from cord blood	blood
4	chr22:30782400-30783800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr22:30782600-30783800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr22:30782600-30783800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr22:30782600-30783800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:30782600-30783800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:30782600-30783800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr22:30782600-30783800	Active TSS	Fetal Kidney	kidney
11	chr22:30782800-30783800	Active TSS	H1 Cell Line	embryonic stem cell
12	chr22:30782800-30783800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30782800-30783800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30782800-30783800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr22:30782800-30783800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr22:30782800-30783800	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr22:30782800-30783800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr22:30782800-30783800	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr22:30782800-30783800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr22:30782800-30783800	Active TSS	Brain Substantia Nigra	brain
21	chr22:30782800-30783800	Active TSS	Colon Smooth Muscle	Colon
22	chr22:30782800-30783800	Active TSS	HSMM	muscle
23	chr22:30782800-30783800	Active TSS	Osteobl	bone
24	chr22:30782800-30784000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr22:30782800-30784000	Active TSS	A549	lung
26	chr22:30782800-30784000	Active TSS	Hela-S3	cervix
27	chr22:30783000-30783800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr22:30783000-30783800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr22:30783000-30783800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr22:30783000-30783800	Active TSS	Brain Germinal Matrix	brain
31	chr22:30783000-30783800	Enhancers	Fetal Brain Male	brain
32	chr22:30783000-30783800	Enhancers	Stomach Mucosa	stomach
33	chr22:30783000-30784000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:30783200-30783800	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr22:30783200-30783800	Enhancers	Primary B cells from peripheral blood	blood
36	chr22:30783200-30783800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr22:30783200-30783800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr22:30783200-30783800	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr22:30783200-30783800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr22:30783200-30784000	Enhancers	Fetal Thymus	thymus
41	chr22:30783200-30787000	Weak transcription	Primary B cells from cord blood	blood
42	chr22:30783400-30783800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:30783400-30783800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr22:30783400-30783800	Enhancers	Left Ventricle	heart
45	chr22:30783400-30783800	Enhancers	Lung	lung
46	chr22:30783400-30783800	Enhancers	Small Intestine	intestine
47	chr22:30783400-30783800	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr22:30783400-30783800	Flanking Active TSS	NH-A	brain
49	chr22:30783400-30784000	Flanking Active TSS	Dnd41	blood
50	chr22:30783600-30783800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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