Variant report

Variant	rs528680680
Chromosome Location	chr22:29601901-29601902
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	ZNF143	chr22:29601278-29602229	GM12878	blood:	n/a	chr22:29601809-29601819
2	EGR1	chr22:29601608-29602063	K562	blood:	n/a	chr22:29601814-29601828 chr22:29601865-29601879 chr22:29601818-29601828 chr22:29601813-29601826
3	TCF12	chr22:29601416-29602279	ECC-1	luminal epithelium:	n/a	chr22:29601737-29601744 chr22:29601937-29601947
4	CTCF	chr22:29601556-29602615	GM12878	blood:	n/a	chr22:29601991-29602004
5	RAD21	chr22:29601874-29602297	H1-hESC	embryonic stem cell:	n/a	chr22:29601977-29601987
6	POLR2A	chr22:29601881-29601980	A549	lung:	n/a	n/a
7	ELF1	chr22:29601189-29602113	HCT-116	colon:	n/a	chr22:29601791-29601802
8	POLR2A	chr22:29601595-29602219	GM15510	blood:	n/a	n/a
9	CTCF	chr22:29601886-29602265	IMR90	lung:	n/a	chr22:29601991-29602004
10	RCOR1	chr22:29601063-29602239	K562	blood:	n/a	n/a
11	ZBTB7A	chr22:29601544-29602363	K562	blood:	n/a	n/a
12	UBTF	chr22:29601889-29602273	K562	blood:	n/a	n/a
13	MYC	chr22:29601370-29602483	NB4	blood:	n/a	chr22:29601719-29601728
14	MXI1	chr22:29601331-29602700	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:29601688-29602712	K562	blood:	n/a	n/a
16	POLR2A	chr22:29601861-29602064	A549	lung:	n/a	n/a
17	ELF1	chr22:29601254-29602474	GM12878	blood:	n/a	chr22:29601791-29601802
18	YY1	chr22:29601857-29602310	HepG2	liver:	n/a	chr22:29601943-29601957 chr22:29601980-29601989 chr22:29601946-29601955 chr22:29601947-29601961 chr22:29601946-29601960
19	MAX	chr22:29601593-29602315	K562	blood:	n/a	chr22:29601719-29601728
20	HMGN3	chr22:29601626-29602281	K562	blood:	n/a	n/a
21	SIN3AK20	chr22:29601895-29602197	K562	blood:	n/a	n/a
22	YY1	chr22:29601860-29602253	GM12878	blood:	n/a	chr22:29601943-29601957 chr22:29601980-29601989 chr22:29601946-29601955 chr22:29601947-29601961 chr22:29601946-29601960
23	MAZ	chr22:29600764-29602981	K562	blood:	n/a	chr22:29601719-29601728
24	POLR2A	chr22:29601830-29602163	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr22:29601713-29602546	GM12892	blood:	n/a	n/a
26	MAX	chr22:29601886-29602487	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr22:29601871-29602198	HCT-116	colon:	n/a	n/a
28	PML	chr22:29601876-29602734	GM12878	blood:	n/a	n/a
29	YY1	chr22:29601853-29602124	GM12892	blood:	n/a	chr22:29601943-29601957 chr22:29601980-29601989 chr22:29601946-29601955 chr22:29601947-29601961 chr22:29601946-29601960
30	MAZ	chr22:29600577-29602661	GM12878	blood:	n/a	chr22:29601719-29601728
31	NFIC	chr22:29601509-29602058	ECC-1	luminal epithelium:	n/a	n/a
32	RUNX3	chr22:29601852-29602174	GM12878	blood:	n/a	n/a
33	ZBTB7A	chr22:29601550-29602658	ECC-1	luminal epithelium:	n/a	chr22:29602371-29602378
34	POLR2A	chr22:29601848-29602323	GM12892	blood:	n/a	n/a
35	GABPA	chr22:29601891-29602523	H1-hESC	embryonic stem cell:	n/a	chr22:29601960-29601969 chr22:29602003-29602012
36	CTCF	chr22:29601601-29602241	K562	blood:	n/a	chr22:29601991-29602004
37	POLR2A	chr22:29601868-29602286	GM12878	blood:	n/a	n/a
38	MAX	chr22:29601766-29602435	HepG2	liver:	n/a	n/a
39	ETS1	chr22:29601886-29602219	K562	blood:	n/a	chr22:29602194-29602208 chr22:29601978-29601989
40	EGR1	chr22:29601576-29602058	K562	blood:	n/a	chr22:29601814-29601828 chr22:29601865-29601879 chr22:29601818-29601828 chr22:29601813-29601826
41	EGR1	chr22:29601653-29602065	GM12878	blood:	n/a	chr22:29601814-29601828 chr22:29601865-29601879 chr22:29601818-29601828 chr22:29601813-29601826
42	MAX	chr22:29601893-29602522	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr22:29601315-29602566	K562	blood:	n/a	chr22:29601719-29601728
44	ZEB1	chr22:29601897-29602518	GM12878	blood:	n/a	n/a
45	MAX	chr22:29601704-29602302	ECC-1	luminal epithelium:	n/a	chr22:29601719-29601728
46	POLR2A	chr22:29599562-29605938	PBDE	blood:	n/a	n/a
47	POLR2A	chr22:29601896-29602139	MCF-7	breast:	n/a	n/a
48	ELF1	chr22:29601501-29602284	K562	blood:	n/a	chr22:29601791-29601802
49	POLR2A	chr22:29601474-29602486	GM18951	blood:	n/a	n/a
50	ELF1	chr22:29601500-29601987	K562	blood:	n/a	chr22:29601791-29601802

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29601860-29601910	HEEpiC	esophagus:	n/a
2	chr22:29601860-29601910	Caco-2	colon:	n/a
3	chr22:29601862-29601912	GM12891	blood:	n/a
4	chr22:29601862-29601912	ovcar-3	ovarian:	n/a
5	chr22:29601862-29601912	NT2-D1	testis:	n/a
6	chr22:29601860-29601910	PFSK-1	brain:	n/a
7	chr22:29601862-29601912	HRCEpiC	kidney:	n/a
8	chr22:29601860-29601910	SAEC	small airway:	n/a
9	chr22:29601862-29601912	HL-60	blood:	n/a
10	chr22:29601862-29601912	GM06990	blood:	n/a
11	chr22:29601860-29601910	H1-hESC	embryonic stem cell:	embryo
12	chr22:29601860-29601910	AG04450	lung:	fetal
13	chr22:29601862-29601912	HPAEpiC	pulmonary alveolar:	n/a
14	chr22:29601862-29601912	AG04449	skin:	fetal
15	chr22:29601862-29601912	HRPEpiC	eye:	n/a
16	chr22:29601860-29601910	HCPEpiC	choroid plexus:	n/a
17	chr22:29601862-29601912	Hepatocyte	liver:	n/a
18	chr22:29601862-29601912	HCF	heart:	n/a
19	chr22:29601860-29601910	HPAEpiC	pulmonary alveolar:	n/a
20	chr22:29601860-29601910	SK-N-MC	brain:	n/a
21	chr22:29601862-29601912	PrEC	prostate:	n/a
22	chr22:29601862-29601912	SKMC	muscle:	n/a
23	chr22:29601862-29601912	Hela-S3	cervix:	n/a
24	chr22:29601860-29601910	CMK	blood:	n/a
25	chr22:29601862-29601912	U87	brain:	n/a
26	chr22:29601862-29601912	HCM	heart:	n/a
27	chr22:29601860-29601910	MCF10A-Er-Src	breast:	n/a
28	chr22:29601862-29601912	BE2_C	brain:	n/a
29	chr22:29601862-29601912	RPTEC	kidney:	n/a
30	chr22:29601860-29601910	IMR90	lung:	fetal
31	chr22:29601860-29601910	PANC-1	pancreas:	n/a
32	chr22:29601860-29601910	Jurkat	blood:	n/a
33	chr22:29601862-29601912	H1-hESC	embryonic stem cell:	embryo
34	chr22:29601862-29601912	AG09309	skin:	n/a
35	chr22:29601862-29601912	Jurkat	blood:	n/a
36	chr22:29601862-29601912	Caco-2	colon:	n/a
37	chr22:29601862-29601912	GM12892	blood:	n/a
38	chr22:29601862-29601912	HEEpiC	esophagus:	n/a
39	chr22:29601862-29601912	NH-A	brain:	n/a
40	chr22:29601862-29601912	HRE	kidney:	n/a
41	chr22:29601862-29601912	SK-N-MC	brain:	n/a
42	chr22:29601860-29601910	BE2_C	brain:	n/a
43	chr22:29601860-29601910	ProgFib	skin:	n/a
44	chr22:29601862-29601912	NB4	blood:	n/a
45	chr22:29601860-29601910	ovcar-3	ovarian:	n/a
46	chr22:29601860-29601910	NB4	blood:	n/a
47	chr22:29601862-29601912	HCPEpiC	choroid plexus:	n/a
48	chr22:29601860-29601910	Hepatocyte	liver:	n/a
49	chr22:29601862-29601912	HEK293	kidney:	embryo
50	chr22:29601860-29601910	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:60970151..60970804-chr22:29601495..29602051,2	HCT-116	colon:
2	chr22:29601873..29603950-chr22:29609240..29612185,2	MCF-7	breast:
3	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:

Variant related genes	Relation type
EMID1	TF binding region
EMID1	CpG island
ENSG00000186998	Chromatin interaction
ENSG00000083544	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	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv524483	chr22:29525126-29630337	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv914958	chr22:29586058-29620599	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1809952	chr22:29595349-29661434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3344633	chr22:29601102-29603000	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29598800-29602000	Weak transcription	Brain Angular Gyrus	brain
2	chr22:29599200-29602200	Weak transcription	Small Intestine	intestine
3	chr22:29600400-29602000	Enhancers	Brain Substantia Nigra	brain
4	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:29600800-29602000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
6	chr22:29600800-29603000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr22:29601000-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr22:29601000-29602800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr22:29601000-29603400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr22:29601200-29602200	Enhancers	Fetal Brain Male	brain
11	chr22:29601200-29602600	Active TSS	A549	lung
12	chr22:29601200-29602800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
13	chr22:29601200-29603400	Active TSS	Fetal Kidney	kidney
14	chr22:29601200-29603400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
15	chr22:29601400-29602000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:29601400-29602000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:29601400-29602200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:29601400-29602200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr22:29601400-29602200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr22:29601400-29602200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr22:29601400-29602200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr22:29601400-29602200	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr22:29601400-29602200	Active TSS	Brain Cingulate Gyrus	brain
24	chr22:29601400-29602200	Active TSS	Brain Germinal Matrix	brain
25	chr22:29601400-29602200	Bivalent/Poised TSS	HMEC	breast
26	chr22:29601400-29602400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr22:29601400-29602400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:29601400-29602400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:29601400-29602400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:29601400-29602400	Active TSS	Colon Smooth Muscle	Colon
31	chr22:29601400-29602400	Bivalent/Poised TSS	HSMM	muscle
32	chr22:29601400-29602400	Active TSS	NH-A	brain
33	chr22:29601400-29602600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:29601400-29602600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr22:29601400-29602600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr22:29601400-29602600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr22:29601400-29602600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:29601400-29602600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29601400-29602600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr22:29601400-29602800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr22:29601400-29602800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr22:29601400-29602800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:29601400-29602800	Active TSS	Ovary	ovary
44	chr22:29601400-29602800	Bivalent/Poised TSS	Thymus	Thymus
45	chr22:29601400-29603000	Active TSS	Brain Anterior Caudate	brain
46	chr22:29601400-29603200	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr22:29601400-29603200	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr22:29601400-29603200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr22:29601400-29603600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
50	chr22:29601600-29602000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links