Variant report

Variant	rs367777290
Chromosome Location	chr2:32234558-32234559
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:65)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:65 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RUNX3	chr2:32234449-32235001	GM12878	blood:	n/a	n/a
2	MAX	chr2:32234481-32235159	K562	blood:	n/a	n/a
3	MAX	chr2:32234314-32235341	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:32234306-32236930	Raji	blood:	n/a	n/a
5	STAT5A	chr2:32234495-32235145	GM12878	blood:	n/a	chr2:32234665-32234672 chr2:32234751-32234763
6	SPI1	chr2:32234504-32234734	GM12878	blood:	n/a	chr2:32234625-32234638 chr2:32234667-32234674
7	POLR2A	chr2:32234312-32236987	GM18505	blood:	n/a	n/a
8	MAX	chr2:32234524-32235170	MCF-7	breast:	n/a	n/a
9	TAF1	chr2:32234404-32235119	ECC-1	luminal epithelium:	n/a	n/a
10	MAFK	chr2:32234138-32234640	Hela-S3	cervix:	n/a	chr2:32234355-32234366 chr2:32234356-32234367 chr2:32234354-32234368 chr2:32234355-32234366
11	MXI1	chr2:32233666-32235353	SK-N-SH	brain:	n/a	n/a
12	ZNF263	chr2:32233257-32235605	HEK293-T-REx	kidney:	n/a	n/a
13	MAZ	chr2:32234539-32234591	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:32234526-32234830	GM12891	blood:	n/a	n/a
15	POLR2A	chr2:32234444-32234609	ProgFib	skin:	n/a	n/a
16	SPI1	chr2:32234462-32234794	GM12891	blood:	n/a	chr2:32234625-32234638 chr2:32234667-32234674
17	MYC	chr2:32234382-32235141	NB4	blood:	n/a	n/a
18	MAZ	chr2:32234519-32235156	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr2:32234380-32234993	GM12891	blood:	n/a	n/a
20	MAX	chr2:32234195-32235269	K562	blood:	n/a	n/a
21	SPI1	chr2:32234479-32234924	HL-60	blood:	n/a	chr2:32234625-32234638 chr2:32234667-32234674
22	POLR2A	chr2:32234441-32237130	GM12892	blood:	n/a	n/a
23	MAX	chr2:32234471-32235327	MCF-7	breast:	n/a	n/a
24	MAX	chr2:32233877-32235534	Hela-S3	cervix:	n/a	n/a
25	SMC3	chr2:32234503-32234872	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:32234388-32235085	SK-N-MC	brain:	n/a	n/a
27	CREB1	chr2:32234509-32234804	A549	lung:	n/a	n/a
28	MXI1	chr2:32234176-32235091	HepG2	liver:	n/a	n/a
29	MAX	chr2:32233970-32235145	NB4	blood:	n/a	n/a
30	EBF1	chr2:32234511-32235089	GM12878	blood:	n/a	n/a
31	SPI1	chr2:32234327-32235000	HL-60	blood:	n/a	chr2:32234625-32234638 chr2:32234667-32234674
32	SIN3AK20	chr2:32234185-32235138	SK-N-SH	brain:	n/a	n/a
33	ZBTB7A	chr2:32234523-32235179	K562	blood:	n/a	n/a
34	UBTF	chr2:32234413-32235253	K562	blood:	n/a	n/a
35	MXI1	chr2:32233583-32235366	IMR90	lung:	n/a	n/a
36	BACH1	chr2:32234364-32234644	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAX	chr2:32234307-32235364	A549	lung:	n/a	n/a
38	UBTF	chr2:32234060-32236435	K562	blood:	n/a	n/a
39	CTCF	chr2:32234520-32234670	SK-N-SH_RA	brain:	n/a	n/a
40	RAD21	chr2:32233856-32235091	IMR90	lung:	n/a	chr2:32234817-32234830 chr2:32234800-32234812 chr2:32234816-32234828
41	MXI1	chr2:32234308-32234994	H1-hESC	embryonic stem cell:	n/a	n/a
42	ELF1	chr2:32234547-32235117	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:32234440-32236462	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:32234412-32235128	GM12878	blood:	n/a	n/a
45	FOXA1	chr2:32233836-32234592	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:32234556-32235091	Hela-S3	cervix:	n/a	n/a
47	MYC	chr2:32234481-32235238	K562	blood:	n/a	n/a
48	SIN3AK20	chr2:32234234-32234757	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:32234498-32236431	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:32234316-32235178	HL-60	blood:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:32233869..32239615-chr2:32259766..32267170,13	K562	blood:
2	chr2:32232898..32237970-chr2:32287390..32290443,5	K562	blood:
3	chr2:32233185..32238105-chr2:32388775..32395245,11	K562	blood:
4	chr2:32231133..32238127-chr2:32263164..32266706,7	MCF-7	breast:
5	chr2:32234479..32235226-chr2:32264789..32265391,2	Hela-S3	cervix:
6	chr2:32233242..32236257-chr2:32247330..32249765,3	MCF-7	breast:
7	chr17:56063594..56066516-chr2:32234123..32236602,2	MCF-7	breast:
8	chr2:32173570..32176188-chr2:32233280..32235054,2	K562	blood:
9	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
10	chr2:32234518..32235424-chr2:32390732..32391392,2	Hela-S3	cervix:
11	chr2:32233869..32235900-chr2:32286911..32289660,3	K562	blood:
12	chr2:32234491..32236283-chr2:32581671..32583851,2	MCF-7	breast:
13	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
14	chr2:32234151..32237531-chr2:32262421..32266825,7	K562	blood:
15	chr1:227916225..227917863-chr2:32234372..32236417,2	MCF-7	breast:
16	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271228	TF binding region
ENSG00000115760	Chromatin interaction
ENSG00000136451	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000162961	Chromatin interaction
ENSG00000143740	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000021574	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv3416925	chr2:32233648-32236796	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv3339024	chr2:32233873-32237321	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr2:32233200-32234600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr2:32233200-32236200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:32233200-32236200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:32233400-32234600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:32233400-32234600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:32233400-32234600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:32233400-32236200	Active TSS	Colonic Mucosa	Colon
8	chr2:32233400-32236200	Active TSS	HSMM	muscle
9	chr2:32233400-32236400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:32233400-32236600	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr2:32233400-32236600	Active TSS	Fetal Intestine Large	intestine
12	chr2:32233600-32234600	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:32233600-32234600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:32233600-32235000	Active TSS	Fetal Kidney	kidney
15	chr2:32233600-32236200	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:32233600-32236200	Active TSS	Muscle Satellite Cultured Cells	--
17	chr2:32233600-32236400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:32233600-32236400	Active TSS	Stomach Smooth Muscle	stomach
19	chr2:32233600-32236600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:32233600-32236600	Active TSS	Right Ventricle	heart
21	chr2:32233600-32236600	Active TSS	GM12878-XiMat	blood
22	chr2:32233600-32236600	Active TSS	HSMMtube	muscle
23	chr2:32233600-32236800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:32233600-32236800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:32233600-32236800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:32233600-32236800	Active TSS	Fetal Muscle Leg	muscle
27	chr2:32233800-32234600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:32233800-32234600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:32233800-32234600	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr2:32233800-32235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:32233800-32235200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
32	chr2:32233800-32236200	Active TSS	Fetal Muscle Trunk	muscle
33	chr2:32233800-32236200	Active TSS	HMEC	breast
34	chr2:32233800-32236200	Active TSS	NHEK	skin
35	chr2:32233800-32236400	Active TSS	H1 Cell Line	embryonic stem cell
36	chr2:32233800-32236600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:32233800-32236800	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr2:32234000-32234600	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr2:32234000-32234600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:32234000-32234800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr2:32234000-32234800	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr2:32234000-32235000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:32234000-32235000	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr2:32234000-32235000	Active TSS	Stomach Mucosa	stomach
45	chr2:32234000-32235000	Bivalent/Poised TSS	HepG2	liver
46	chr2:32234000-32235000	Active TSS	K562	blood
47	chr2:32234000-32235000	Active TSS	NHDF-Ad	bronchial
48	chr2:32234000-32235200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:32234000-32236200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:32234000-32236200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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