Variant report

Variant	rs559792943
Chromosome Location	chr22:29601639-29601640
allele	A/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	RCOR1	chr22:29601197-29601741	GM12878	blood:	n/a	n/a
2	ZNF143	chr22:29601278-29602229	GM12878	blood:	n/a	chr22:29601809-29601819
3	EGR1	chr22:29601608-29602063	K562	blood:	n/a	chr22:29601814-29601828 chr22:29601865-29601879 chr22:29601818-29601828 chr22:29601813-29601826
4	TCF12	chr22:29601416-29602279	ECC-1	luminal epithelium:	n/a	chr22:29601737-29601744 chr22:29601937-29601947
5	CTCF	chr22:29601556-29602615	GM12878	blood:	n/a	chr22:29601991-29602004
6	YY1	chr22:29601540-29601837	GM12892	blood:	n/a	chr22:29601818-29601827 chr22:29601809-29601823 chr22:29601815-29601829 chr22:29601826-29601837 chr22:29601689-29601698
7	CTCF	chr22:29601620-29601770	SK-N-SH_RA	brain:	n/a	n/a
8	ELF1	chr22:29601189-29602113	HCT-116	colon:	n/a	chr22:29601791-29601802
9	POLR2A	chr22:29601595-29602219	GM15510	blood:	n/a	n/a
10	CTCF	chr22:29601620-29601770	WERI-Rb-1	eye:	n/a	n/a
11	RCOR1	chr22:29601063-29602239	K562	blood:	n/a	n/a
12	ZBTB7A	chr22:29601544-29602363	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	ELF1	chr22:29601254-29602474	GM12878	blood:	n/a	chr22:29601791-29601802
16	MAX	chr22:29601593-29602315	K562	blood:	n/a	chr22:29601719-29601728
17	HMGN3	chr22:29601626-29602281	K562	blood:	n/a	n/a
18	MAZ	chr22:29600764-29602981	K562	blood:	n/a	chr22:29601719-29601728
19	ZEB1	chr22:29601284-29601833	GM12878	blood:	n/a	chr22:29601588-29601600 chr22:29601591-29601598 chr22:29601590-29601599
20	CTCF	chr22:29601600-29601750	GM12871	blood:	n/a	n/a
21	MAZ	chr22:29600577-29602661	GM12878	blood:	n/a	chr22:29601719-29601728
22	NFIC	chr22:29601509-29602058	ECC-1	luminal epithelium:	n/a	n/a
23	ZBTB7A	chr22:29601550-29602658	ECC-1	luminal epithelium:	n/a	chr22:29602371-29602378
24	CTCF	chr22:29601601-29602241	K562	blood:	n/a	chr22:29601991-29602004
25	CTCF	chr22:29601600-29601750	Caco-2	colon:	n/a	n/a
26	POLR2A	chr22:29601567-29601845	K562	blood:	n/a	n/a
27	POLR2A	chr22:29601573-29601814	HCT-116	colon:	n/a	n/a
28	EGR1	chr22:29601576-29602058	K562	blood:	n/a	chr22:29601814-29601828 chr22:29601865-29601879 chr22:29601818-29601828 chr22:29601813-29601826
29	MYC	chr22:29601315-29602566	K562	blood:	n/a	chr22:29601719-29601728
30	JUND	chr22:29601388-29601739	K562	blood:	n/a	n/a
31	MAZ	chr22:29601533-29601724	HepG2	liver:	n/a	n/a
32	ELF1	chr22:29601595-29601878	HepG2	liver:	n/a	chr22:29601791-29601802
33	SIN3A	chr22:29601391-29601765	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr22:29599562-29605938	PBDE	blood:	n/a	n/a
35	ELF1	chr22:29601501-29602284	K562	blood:	n/a	chr22:29601791-29601802
36	POLR2A	chr22:29601474-29602486	GM18951	blood:	n/a	n/a
37	CTCF	chr22:29601580-29601730	GM12868	blood:	n/a	n/a
38	ELF1	chr22:29601500-29601987	K562	blood:	n/a	chr22:29601791-29601802
39	ELF1	chr22:29601564-29602013	MCF-7	breast:	n/a	chr22:29601791-29601802
40	CTCF	chr22:29601580-29601730	GM12866	blood:	n/a	n/a
41	ELF1	chr22:29601557-29602138	GM12878	blood:	n/a	chr22:29601791-29601802
42	MAZ	chr22:29601436-29602575	IMR90	lung:	n/a	chr22:29601719-29601728
43	MAX	chr22:29601261-29601768	H1-hESC	embryonic stem cell:	n/a	chr22:29601719-29601728
44	EBF1	chr22:29601595-29602181	GM12878	blood:	n/a	n/a
45	CCNT2	chr22:29601582-29602429	K562	blood:	n/a	chr22:29601689-29601698 chr22:29601818-29601827
46	STAT5A	chr22:29601067-29601749	GM12878	blood:	n/a	n/a
47	CTCF	chr22:29601616-29601854	GM19238	blood:	n/a	n/a
48	CTCF	chr22:29601637-29601830	GM12892	blood:	n/a	n/a
49	SIN3A	chr22:29601466-29601786	GM12878	blood:	n/a	n/a
50	POLR2A	chr22:29601590-29602408	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29601619-29601669	NH-A	brain:	n/a
2	chr22:29601619-29601669	PFSK-1	brain:	n/a
3	chr22:29601619-29601669	ECC-1	luminal epithelium:	n/a
4	chr22:29601619-29601669	Hepatocyte	liver:	n/a
5	chr22:29601619-29601669	HNPCEpiC	eye:	n/a
6	chr22:29601619-29601669	IMR90	lung:	fetal
7	chr22:29601619-29601669	BJ	skin:	n/a
8	chr22:29601619-29601669	SKMC	muscle:	n/a
9	chr22:29601619-29601669	GM12891	blood:	n/a
10	chr22:29601619-29601669	HIPEpiC	eye:	n/a
11	chr22:29601619-29601669	AG09319	gingival:	n/a
12	chr22:29601619-29601669	AoSMC	blood vessel:	n/a
13	chr22:29601619-29601669	HRPEpiC	eye:	n/a
14	chr22:29601619-29601669	HAEpiC	amniotic membrane:	n/a
15	chr22:29601619-29601669	ProgFib	skin:	n/a
16	chr22:29601619-29601669	BE2_C	brain:	n/a
17	chr22:29601619-29601669	HRCEpiC	kidney:	n/a
18	chr22:29601619-29601669	HEK293	kidney:	embryo
19	chr22:29601619-29601669	HCT-116	colon:	n/a
20	chr22:29601619-29601669	HepG2	liver:	n/a
21	chr22:29601619-29601669	HMEC	breast:	n/a
22	chr22:29601619-29601669	ovcar-3	ovarian:	n/a
23	chr22:29601619-29601669	HUVEC	blood vessel:	n/a
24	chr22:29601619-29601669	MCF10A-Er-Src	breast:	n/a
25	chr22:29601619-29601669	HEEpiC	esophagus:	n/a
26	chr22:29601619-29601669	Jurkat	blood:	n/a
27	chr22:29601619-29601669	AG04449	skin:	fetal
28	chr22:29601619-29601669	NB4	blood:	n/a
29	chr22:29601619-29601669	PrEC	prostate:	n/a
30	chr22:29601619-29601669	CMK	blood:	n/a
31	chr22:29601619-29601669	AG04450	lung:	fetal
32	chr22:29601619-29601669	NT2-D1	testis:	n/a
33	chr22:29601619-29601669	GM19239	blood:	n/a
34	chr22:29601619-29601669	H1-hESC	embryonic stem cell:	embryo
35	chr22:29601619-29601669	SK-N-SH_RA	brain:	n/a
36	chr22:29601619-29601669	GM06990	blood:	n/a
37	chr22:29601619-29601669	AG09309	skin:	n/a
38	chr22:29601619-29601669	Hela-S3	cervix:	n/a
39	chr22:29601619-29601669	PANC-1	pancreas:	n/a
40	chr22:29601619-29601669	GM12878	blood:	n/a
41	chr22:29601619-29601669	T-47D	breast:	n/a
42	chr22:29601619-29601669	K562	blood:	n/a
43	chr22:29601619-29601669	LNCaP	prostate:	n/a
44	chr22:29601619-29601669	Caco-2	colon:	n/a
45	chr22:29601619-29601669	SK-N-SH	brain:	n/a
46	chr22:29601619-29601669	AG10803	skin:	n/a
47	chr22:29601619-29601669	SK-N-MC	brain:	n/a
48	chr22:29601619-29601669	SAEC	small airway:	n/a
49	chr22:29601619-29601669	NHDF-neo	bronchial:	n/a
50	chr22:29601619-29601669	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:60970151..60970804-chr22:29601495..29602051,2	HCT-116	colon:
2	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:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
2	chr22:29598800-29602000	Weak transcription	Brain Angular Gyrus	brain
3	chr22:29599200-29602200	Weak transcription	Small Intestine	intestine
4	chr22:29600200-29601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr22:29600200-29601800	Flanking Active TSS	GM12878-XiMat	blood
6	chr22:29600400-29601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr22:29600400-29602000	Enhancers	Brain Substantia Nigra	brain
8	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:29600800-29602000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr22:29600800-29603000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr22:29601000-29601800	Enhancers	Fetal Lung	lung
12	chr22:29601000-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:29601000-29602800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
14	chr22:29601000-29603400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr22:29601200-29601800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:29601200-29602200	Enhancers	Fetal Brain Male	brain
17	chr22:29601200-29602600	Active TSS	A549	lung
18	chr22:29601200-29602800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
19	chr22:29601200-29603400	Active TSS	Fetal Kidney	kidney
20	chr22:29601200-29603400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
21	chr22:29601400-29601800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:29601400-29601800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:29601400-29601800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr22:29601400-29601800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
25	chr22:29601400-29601800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr22:29601400-29601800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr22:29601400-29601800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr22:29601400-29601800	Flanking Active TSS	Liver	Liver
29	chr22:29601400-29601800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr22:29601400-29601800	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr22:29601400-29601800	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr22:29601400-29601800	Flanking Active TSS	Placenta	Placenta
33	chr22:29601400-29601800	Flanking Active TSS	Fetal Thymus	thymus
34	chr22:29601400-29602000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr22:29601400-29602000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:29601400-29602200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:29601400-29602200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr22:29601400-29602200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:29601400-29602200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr22:29601400-29602200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr22:29601400-29602200	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr22:29601400-29602200	Active TSS	Brain Cingulate Gyrus	brain
43	chr22:29601400-29602200	Active TSS	Brain Germinal Matrix	brain
44	chr22:29601400-29602200	Bivalent/Poised TSS	HMEC	breast
45	chr22:29601400-29602400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
46	chr22:29601400-29602400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr22:29601400-29602400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:29601400-29602400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:29601400-29602400	Active TSS	Colon Smooth Muscle	Colon
50	chr22:29601400-29602400	Bivalent/Poised TSS	HSMM	muscle

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