Variant report

Variant	rs530164069
Chromosome Location	chr2:32234799-32234800
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 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	POLR2A	chr2:32234631-32235178	HUVEC	blood vessel:	n/a	n/a
3	SIN3AK20	chr2:32234740-32235261	K562	blood:	n/a	n/a
4	MAX	chr2:32234481-32235159	K562	blood:	n/a	n/a
5	POLR2A	chr2:32234708-32235324	ECC-1	luminal epithelium:	n/a	n/a
6	MAX	chr2:32234314-32235341	HepG2	liver:	n/a	n/a
7	CCNT2	chr2:32234582-32235329	K562	blood:	n/a	n/a
8	POLR2A	chr2:32234790-32235138	Hela-S3	cervix:	n/a	n/a
9	MAX	chr2:32234643-32235071	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:32234306-32236930	Raji	blood:	n/a	n/a
11	POLR2A	chr2:32234610-32236509	MCF-7	breast:	n/a	n/a
12	STAT5A	chr2:32234495-32235145	GM12878	blood:	n/a	chr2:32234665-32234672 chr2:32234751-32234763
13	POLR2A	chr2:32234312-32236987	GM18505	blood:	n/a	n/a
14	MAX	chr2:32234524-32235170	MCF-7	breast:	n/a	n/a
15	MAX	chr2:32234628-32235348	ECC-1	luminal epithelium:	n/a	n/a
16	TAF1	chr2:32234404-32235119	ECC-1	luminal epithelium:	n/a	n/a
17	CHD1	chr2:32234686-32235047	GM12878	blood:	n/a	n/a
18	HEY1	chr2:32234734-32235688	K562	blood:	n/a	chr2:32235361-32235376 chr2:32235358-32235373
19	MXI1	chr2:32233666-32235353	SK-N-SH	brain:	n/a	n/a
20	ZNF263	chr2:32233257-32235605	HEK293-T-REx	kidney:	n/a	n/a
21	CHD2	chr2:32234619-32234873	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:32234574-32236583	GM18951	blood:	n/a	n/a
23	MAX	chr2:32234761-32235118	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:32234662-32236522	GM19193	blood:	n/a	n/a
25	POLR2A	chr2:32234591-32236581	Hela-S3	cervix:	n/a	n/a
26	MAX	chr2:32234770-32235131	A549	lung:	n/a	n/a
27	MAX	chr2:32234760-32235235	K562	blood:	n/a	n/a
28	POLR2A	chr2:32234526-32234830	GM12891	blood:	n/a	n/a
29	RCOR1	chr2:32234688-32234999	GM12878	blood:	n/a	n/a
30	E2F6	chr2:32234712-32235278	K562	blood:	n/a	chr2:32234997-32235008
31	MYC	chr2:32234745-32235114	MCF10A-Er-Src	breast:	n/a	n/a
32	MYC	chr2:32234382-32235141	NB4	blood:	n/a	n/a
33	CTCF	chr2:32234760-32234910	GM12871	blood:	n/a	n/a
34	MAZ	chr2:32234519-32235156	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:32234380-32234993	GM12891	blood:	n/a	n/a
36	MAX	chr2:32234195-32235269	K562	blood:	n/a	n/a
37	SPI1	chr2:32234479-32234924	HL-60	blood:	n/a	chr2:32234625-32234638 chr2:32234667-32234674
38	POLR2A	chr2:32234441-32237130	GM12892	blood:	n/a	n/a
39	MAX	chr2:32234471-32235327	MCF-7	breast:	n/a	n/a
40	MAX	chr2:32233877-32235534	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr2:32234567-32235093	GM12878	blood:	n/a	n/a
42	MAX	chr2:32234578-32235350	A549	lung:	n/a	n/a
43	SMC3	chr2:32234503-32234872	GM12878	blood:	n/a	n/a
44	POLR2A	chr2:32234388-32235085	SK-N-MC	brain:	n/a	n/a
45	YY1	chr2:32234770-32235213	K562	blood:	n/a	chr2:32234981-32234995
46	CREB1	chr2:32234509-32234804	A549	lung:	n/a	n/a
47	MXI1	chr2:32234176-32235091	HepG2	liver:	n/a	n/a
48	MAX	chr2:32233970-32235145	NB4	blood:	n/a	n/a
49	POLR2A	chr2:32234739-32235144	Hela-S3	cervix:	n/a	n/a
50	EBF1	chr2:32234511-32235089	GM12878	blood:	n/a	n/a

No data

(count:19 , 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	chr2:32234641..32236375-chr2:32389314..32391737,5	MCF-7	breast:
7	chr2:32166637..32169522-chr2:32234606..32236345,2	K562	blood:
8	chr2:32233242..32236257-chr2:32247330..32249765,3	MCF-7	breast:
9	chr17:56063594..56066516-chr2:32234123..32236602,2	MCF-7	breast:
10	chr2:32173570..32176188-chr2:32233280..32235054,2	K562	blood:
11	chr2:32233050..32238839-chr2:32262715..32266551,10	MCF-7	breast:
12	chr2:32234518..32235424-chr2:32390732..32391392,2	Hela-S3	cervix:
13	chr2:32233869..32235900-chr2:32286911..32289660,3	K562	blood:
14	chr2:32234491..32236283-chr2:32581671..32583851,2	MCF-7	breast:
15	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
16	chr2:32234151..32237531-chr2:32262421..32266825,7	K562	blood:
17	chr1:227916225..227917863-chr2:32234372..32236417,2	MCF-7	breast:
18	chr2:32234599..32235496-chr21:36260941..36261595,2	Hela-S3	cervix:
19	chr2:32233077..32237611-chr2:32388376..32395245,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000271228	TF binding region
ENSG00000152683	Chromatin interaction
ENSG00000115760	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000136451	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000272716	Chromatin interaction
ENSG00000162961	Chromatin interaction
ENSG00000143740	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	chr2:32233200-32236200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:32233200-32236200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:32233400-32236200	Active TSS	Colonic Mucosa	Colon
4	chr2:32233400-32236200	Active TSS	HSMM	muscle
5	chr2:32233400-32236400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:32233400-32236600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:32233400-32236600	Active TSS	Fetal Intestine Large	intestine
8	chr2:32233600-32235000	Active TSS	Fetal Kidney	kidney
9	chr2:32233600-32236200	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:32233600-32236200	Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:32233600-32236400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:32233600-32236400	Active TSS	Stomach Smooth Muscle	stomach
13	chr2:32233600-32236600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:32233600-32236600	Active TSS	Right Ventricle	heart
15	chr2:32233600-32236600	Active TSS	GM12878-XiMat	blood
16	chr2:32233600-32236600	Active TSS	HSMMtube	muscle
17	chr2:32233600-32236800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:32233600-32236800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:32233600-32236800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:32233600-32236800	Active TSS	Fetal Muscle Leg	muscle
21	chr2:32233800-32235000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr2:32233800-32235200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:32233800-32236200	Active TSS	Fetal Muscle Trunk	muscle
24	chr2:32233800-32236200	Active TSS	HMEC	breast
25	chr2:32233800-32236200	Active TSS	NHEK	skin
26	chr2:32233800-32236400	Active TSS	H1 Cell Line	embryonic stem cell
27	chr2:32233800-32236600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:32233800-32236800	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr2:32234000-32234800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr2:32234000-32234800	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr2:32234000-32235000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:32234000-32235000	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr2:32234000-32235000	Active TSS	Stomach Mucosa	stomach
34	chr2:32234000-32235000	Bivalent/Poised TSS	HepG2	liver
35	chr2:32234000-32235000	Active TSS	K562	blood
36	chr2:32234000-32235000	Active TSS	NHDF-Ad	bronchial
37	chr2:32234000-32235200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
38	chr2:32234000-32236200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:32234000-32236200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr2:32234000-32236200	Active TSS	Fetal Intestine Small	intestine
41	chr2:32234000-32236200	Active TSS	Fetal Thymus	thymus
42	chr2:32234000-32236400	Active TSS	Fetal Stomach	stomach
43	chr2:32234000-32236600	Active TSS	H9 Cell Line	embryonic stem cell
44	chr2:32234000-32236600	Active TSS	Fetal Brain Female	brain
45	chr2:32234000-32236600	Active TSS	Ovary	ovary
46	chr2:32234000-32236600	Active TSS	Psoas Muscle	Psoas
47	chr2:32234000-32236600	Active TSS	Right Atrium	heart
48	chr2:32234000-32236800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:32234000-32237000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:32234000-32237200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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