Variant report

Variant	rs577165983
Chromosome Location	chr22:30783377-30783378
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	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	HCFC1	chr22:30783365-30783655	K562	blood:	n/a	n/a
3	SIN3A	chr22:30782727-30783777	H1-hESC	embryonic stem cell:	n/a	n/a
4	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
5	RAD21	chr22:30783235-30783704	SK-N-SH_RA	brain:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
6	MAZ	chr22:30782923-30783659	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr22:30782824-30783480	HCT-116	colon:	n/a	n/a
8	RAD21	chr22:30783319-30783687	A549	lung:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
9	POLR2A	chr22:30782693-30783436	MCF-7	breast:	n/a	n/a
10	RAD21	chr22:30783303-30783678	SK-N-SH_RA	brain:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
11	CCNT2	chr22:30782981-30783651	K562	blood:	n/a	n/a
12	CHD2	chr22:30783024-30783733	Hela-S3	cervix:	n/a	n/a
13	RAD21	chr22:30783363-30783729	MCF-7	breast:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
14	ZBTB7A	chr22:30783233-30783693	HepG2	liver:	n/a	chr22:30783490-30783499
15	POLR2A	chr22:30782819-30783725	ECC-1	luminal epithelium:	n/a	n/a
16	STAT1	chr22:30783351-30783616	GM12878	blood:	n/a	n/a
17	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
18	CREB1	chr22:30782930-30783780	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr22:30782918-30783733	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr22:30783036-30783415	GM12878	blood:	n/a	n/a
21	ZBTB7A	chr22:30783323-30783678	K562	blood:	n/a	chr22:30783490-30783499
22	POLR2A	chr22:30782959-30783446	A549	lung:	n/a	n/a
23	POLR2A	chr22:30782952-30783410	A549	lung:	n/a	n/a
24	POLR2A	chr22:30783068-30783386	SK-N-SH	brain:	n/a	n/a
25	SMC3	chr22:30783321-30783745	Hela-S3	cervix:	n/a	chr22:30783491-30783501 chr22:30783491-30783505 chr22:30783715-30783722 chr22:30783498-30783505
26	YY1	chr22:30783076-30783651	GM12892	blood:	n/a	chr22:30783484-30783498
27	RCOR1	chr22:30783368-30783644	K562	blood:	n/a	n/a
28	TCF12	chr22:30783175-30783652	ECC-1	luminal epithelium:	n/a	n/a
29	ZNF143	chr22:30783294-30783687	GM12878	blood:	n/a	chr22:30783340-30783358 chr22:30783345-30783355
30	EGR1	chr22:30783335-30783586	K562	blood:	n/a	chr22:30783500-30783510
31	POLR2A	chr22:30782868-30783592	GM18951	blood:	n/a	n/a
32	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
33	POLR2A	chr22:30782886-30783585	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr22:30782901-30783459	A549	lung:	n/a	n/a
35	PAX5	chr22:30782942-30783681	GM12892	blood:	n/a	chr22:30783588-30783597
36	RAD21	chr22:30783334-30783597	GM12878	blood:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783490-30783503
37	RAD21	chr22:30783323-30783649	Hela-S3	cervix:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783490-30783503
38	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
39	RAD21	chr22:30783332-30783724	GM12878	blood:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783651-30783660 chr22:30783490-30783503
40	MAZ	chr22:30782947-30783655	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:30782915-30783475	HepG2	liver:	n/a	n/a
42	CTCF	chr22:30783362-30783702	GM12892	blood:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
43	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
44	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
45	CTCF	chr22:30783362-30783695	T-47D	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	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a
47	POLR2A	chr22:30782578-30783679	PFSK-1	brain:	n/a	n/a
48	RAD21	chr22:30783286-30783590	K562	blood:	n/a	chr22:30783487-30783506 chr22:30783491-30783505 chr22:30783519-30783532 chr22:30783491-30783501 chr22:30783490-30783503
49	CTCF	chr22:30783291-30783609	T-47D	breast:	n/a	chr22:30783491-30783504 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783492-30783502
50	IRF1	chr22:30783331-30783650	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30783371-30783421	HPAEpiC	pulmonary alveolar:	n/a
2	chr22:30783362-30783412	HRPEpiC	eye:	n/a
3	chr22:30783371-30783421	NT2-D1	testis:	n/a
4	chr22:30783362-30783412	K562	blood:	n/a
5	chr22:30783371-30783421	HCPEpiC	choroid plexus:	n/a
6	chr22:30783362-30783412	PANC-1	pancreas:	n/a
7	chr22:30783371-30783421	GM12878	blood:	n/a
8	chr22:30783362-30783412	HCF	heart:	n/a
9	chr22:30783371-30783421	HCM	heart:	n/a
10	chr22:30783362-30783412	BJ	skin:	n/a
11	chr22:30783371-30783421	A549	lung:	n/a
12	chr22:30783371-30783421	SAEC	small airway:	n/a
13	chr22:30783371-30783421	PFSK-1	brain:	n/a
14	chr22:30783362-30783412	Caco-2	colon:	n/a
15	chr22:30783371-30783421	Hela-S3	cervix:	n/a
16	chr22:30783362-30783412	ProgFib	skin:	n/a
17	chr22:30783362-30783412	HRCEpiC	kidney:	n/a
18	chr22:30783362-30783412	AG09319	gingival:	n/a
19	chr22:30783371-30783421	GM12892	blood:	n/a
20	chr22:30783362-30783412	NHDF-neo	bronchial:	n/a
21	chr22:30783371-30783421	AG09309	skin:	n/a
22	chr22:30783371-30783421	SK-N-SH	brain:	n/a
23	chr22:30783362-30783412	RPTEC	kidney:	n/a
24	chr22:30783362-30783412	HNPCEpiC	eye:	n/a
25	chr22:30783371-30783421	AG04450	lung:	fetal
26	chr22:30783371-30783421	SK-N-SH_RA	brain:	n/a
27	chr22:30783371-30783421	MCF-7	breast:	n/a
28	chr22:30783362-30783412	ovcar-3	ovarian:	n/a
29	chr22:30783362-30783412	AG04449	skin:	fetal
30	chr22:30783362-30783412	NHBE	bronchial:	n/a
31	chr22:30783371-30783421	BE2_C	brain:	n/a
32	chr22:30783371-30783421	NH-A	brain:	n/a
33	chr22:30783362-30783412	AG10803	skin:	n/a
34	chr22:30783362-30783412	GM12891	blood:	n/a
35	chr22:30783362-30783412	BE2_C	brain:	n/a
36	chr22:30783371-30783421	HRPEpiC	eye:	n/a
37	chr22:30783362-30783412	A549	lung:	n/a
38	chr22:30783362-30783412	GM06990	blood:	n/a
39	chr22:30783362-30783412	SK-N-MC	brain:	n/a
40	chr22:30783371-30783421	Jurkat	blood:	n/a
41	chr22:30783362-30783412	GM12878	blood:	n/a
42	chr22:30783371-30783421	HRCEpiC	kidney:	n/a
43	chr22:30783362-30783412	HRE	kidney:	n/a
44	chr22:30783371-30783421	HRE	kidney:	n/a
45	chr22:30783362-30783412	HAEpiC	amniotic membrane:	n/a
46	chr22:30783362-30783412	SKMC	muscle:	n/a
47	chr22:30783362-30783412	HCT-116	colon:	n/a
48	chr22:30783371-30783421	AoSMC	blood vessel:	n/a
49	chr22:30783371-30783421	HEEpiC	esophagus:	n/a
50	chr22:30783371-30783421	SK-N-MC	brain:	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	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
6	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
7	chr22:30683315..30684641-chr22:30783196..30784353,5	MCF-7	breast:
8	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
9	chr22:30684150..30686115-chr22:30783000..30785215,3	K562	blood:
10	chr22:30783066..30785199-chr22:30819529..30822458,2	K562	blood:
11	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
12	chr22:30682210..30683992-chr22:30781064..30783506,2	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
ENSG00000100003	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000187860	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099985	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000099995	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30782200-30783600	Enhancers	Fetal Heart	heart
2	chr22:30782200-30783800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr22:30782200-30784000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr22:30782400-30783400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:30782400-30783600	Active TSS	Psoas Muscle	Psoas
6	chr22:30782400-30783800	Enhancers	Primary T cells from cord blood	blood
7	chr22:30782400-30783800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr22:30782600-30783400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr22:30782600-30783800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr22:30782600-30783800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr22:30782600-30783800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr22:30782600-30783800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30782600-30783800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30782600-30783800	Active TSS	Fetal Kidney	kidney
15	chr22:30782800-30783400	Active TSS	Gastric	stomach
16	chr22:30782800-30783400	Active TSS	Left Ventricle	heart
17	chr22:30782800-30783400	Active TSS	Lung	lung
18	chr22:30782800-30783400	Active TSS	Spleen	Spleen
19	chr22:30782800-30783600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:30782800-30783600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr22:30782800-30783600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:30782800-30783600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr22:30782800-30783600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr22:30782800-30783600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr22:30782800-30783600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:30782800-30783600	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr22:30782800-30783600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr22:30782800-30783600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:30782800-30783600	Active TSS	Aorta	Aorta
30	chr22:30782800-30783600	Active TSS	Brain Angular Gyrus	brain
31	chr22:30782800-30783600	Active TSS	Brain Anterior Caudate	brain
32	chr22:30782800-30783600	Active TSS	Brain Cingulate Gyrus	brain
33	chr22:30782800-30783600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr22:30782800-30783600	Active TSS	Colonic Mucosa	Colon
35	chr22:30782800-30783600	Active TSS	Esophagus	oesophagus
36	chr22:30782800-30783600	Active TSS	Fetal Brain Female	brain
37	chr22:30782800-30783600	Active TSS	Fetal Lung	lung
38	chr22:30782800-30783600	Active TSS	Fetal Stomach	stomach
39	chr22:30782800-30783600	Active TSS	Pancreas	Pancrea
40	chr22:30782800-30783600	Active TSS	Rectal Smooth Muscle	rectum
41	chr22:30782800-30783600	Active TSS	Right Atrium	heart
42	chr22:30782800-30783600	Bivalent/Poised TSS	Thymus	Thymus
43	chr22:30782800-30783600	Active TSS	HepG2	liver
44	chr22:30782800-30783600	Active TSS	HSMMtube	muscle
45	chr22:30782800-30783600	Active TSS	HUVEC	blood vessel
46	chr22:30782800-30783600	Active TSS	NHDF-Ad	bronchial
47	chr22:30782800-30783600	Active TSS	NHEK	skin
48	chr22:30782800-30783600	Active TSS	NHLF	lung
49	chr22:30782800-30783800	Active TSS	H1 Cell Line	embryonic stem cell
50	chr22:30782800-30783800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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