Variant report

Variant	rs564793581
Chromosome Location	chr12:122458928-122458929
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr12:122458631-122459133	MCF-7	breast:	n/a	n/a
2	GATA3	chr12:122458724-122459039	MCF-7	breast:	n/a	n/a
3	SIN3A	chr12:122458805-122460090	H1-hESC	embryonic stem cell:	n/a	chr12:122459458-122459471 chr12:122459021-122459030
4	GATA3	chr12:122458621-122459227	MCF-7	breast:	n/a	n/a
5	MXI1	chr12:122458857-122462827	SK-N-SH	brain:	n/a	n/a
6	MAX	chr12:122458921-122462255	A549	lung:	n/a	chr12:122461435-122461444 chr12:122460774-122460783 chr12:122461436-122461443 chr12:122461434-122461445 chr12:122461433-122461446 chr12:122459589-122459599 chr12:122461435-122461445
7	POLR2A	chr12:122458528-122460103	Raji	blood:	n/a	n/a
8	HDAC2	chr12:122458669-122459708	MCF-7	breast:	n/a	n/a
9	NR2F2	chr12:122458637-122459206	MCF-7	breast:	n/a	n/a
10	MAX	chr12:122458665-122459682	MCF-7	breast:	n/a	chr12:122459589-122459599
11	MTA3	chr12:122458809-122459184	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:122458893-122458943	BE2_C	brain:	n/a
2	chr12:122458893-122458943	K562	blood:	n/a
3	chr12:122458893-122458943	SK-N-SH_RA	brain:	n/a
4	chr12:122458893-122458943	SK-N-MC	brain:	n/a
5	chr12:122458893-122458943	HRCEpiC	kidney:	n/a
6	chr12:122458893-122458943	Jurkat	blood:	n/a
7	chr12:122458893-122458943	HPAEpiC	pulmonary alveolar:	n/a
8	chr12:122458893-122458943	AG09309	skin:	n/a
9	chr12:122458893-122458943	HRE	kidney:	n/a
10	chr12:122458893-122458943	HCF	heart:	n/a
11	chr12:122458893-122458943	NHBE	bronchial:	n/a
12	chr12:122458893-122458943	SAEC	small airway:	n/a
13	chr12:122458893-122458943	RPTEC	kidney:	n/a
14	chr12:122458893-122458943	NH-A	brain:	n/a
15	chr12:122458893-122458943	AG09319	gingival:	n/a
16	chr12:122458893-122458943	HUVEC	blood vessel:	n/a
17	chr12:122458893-122458943	SKMC	muscle:	n/a
18	chr12:122458893-122458943	HNPCEpiC	eye:	n/a
19	chr12:122458893-122458943	Hepatocyte	liver:	n/a
20	chr12:122458893-122458943	GM06990	blood:	n/a
21	chr12:122458893-122458943	LNCaP	prostate:	n/a
22	chr12:122458893-122458943	HCM	heart:	n/a
23	chr12:122458893-122458943	SK-N-SH	brain:	n/a
24	chr12:122458893-122458943	HepG2	liver:	n/a
25	chr12:122458893-122458943	T-47D	breast:	n/a
26	chr12:122458893-122458943	GM19239	blood:	n/a
27	chr12:122458893-122458943	MCF-7	breast:	n/a
28	chr12:122458893-122458943	AG10803	skin:	n/a
29	chr12:122458893-122458943	U87	brain:	n/a
30	chr12:122458893-122458943	CMK	blood:	n/a
31	chr12:122458893-122458943	ECC-1	luminal epithelium:	n/a
32	chr12:122458893-122458943	IMR90	lung:	fetal
33	chr12:122458893-122458943	AG04450	lung:	fetal
34	chr12:122458893-122458943	HEEpiC	esophagus:	n/a
35	chr12:122458893-122458943	ovcar-3	ovarian:	n/a
36	chr12:122458893-122458943	NB4	blood:	n/a
37	chr12:122458893-122458943	BJ	skin:	n/a
38	chr12:122458893-122458943	HMEC	breast:	n/a
39	chr12:122458893-122458943	ProgFib	skin:	n/a
40	chr12:122458893-122458943	A549	lung:	n/a
41	chr12:122458893-122458943	HL-60	blood:	n/a
42	chr12:122458893-122458943	HCT-116	colon:	n/a
43	chr12:122458893-122458943	HCPEpiC	choroid plexus:	n/a
44	chr12:122458893-122458943	GM12878	blood:	n/a
45	chr12:122458893-122458943	MCF10A-Er-Src	breast:	n/a
46	chr12:122458893-122458943	HEK293	kidney:	embryo
47	chr12:122458893-122458943	HRPEpiC	eye:	n/a
48	chr12:122458893-122458943	HAEpiC	amniotic membrane:	n/a
49	chr12:122458893-122458943	GM12891	blood:	n/a
50	chr12:122458893-122458943	Caco-2	colon:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
2	chr12:122237430..122243628-chr12:122458689..122463112,11	MCF-7	breast:
3	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
4	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
5	chr12:122458897..122461646-chr12:122516392..122519046,3	MCF-7	breast:
6	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
7	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
8	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
9	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
10	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
11	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
12	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255856	TF binding region
BCL7A	TF binding region
ENSG00000255856	CpG island
BCL7A	CpG island
ENSG00000110987	Chromatin interaction
ENSG00000158023	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000175727	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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3338715	chr12:122457569-122462467	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3388753	chr12:122458594-122461542	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
2	chr12:122454800-122459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122458400-122459000	Enhancers	Fetal Brain Male	brain
4	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood
5	chr12:122458600-122459000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:122458600-122459000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
7	chr12:122458600-122459000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr12:122458600-122459000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:122458600-122459000	Enhancers	Primary hematopoietic stem cells	blood
10	chr12:122458600-122459000	Active TSS	Brain Angular Gyrus	brain
11	chr12:122458600-122459000	Enhancers	Brain Hippocampus Middle	brain
12	chr12:122458600-122459000	Enhancers	Fetal Heart	heart
13	chr12:122458600-122459000	Enhancers	Fetal Intestine Large	intestine
14	chr12:122458600-122459000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr12:122458600-122459000	Bivalent Enhancer	Fetal Stomach	stomach
16	chr12:122458600-122459000	Enhancers	Left Ventricle	heart
17	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:122458600-122459200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr12:122458600-122459200	Flanking Bivalent TSS/Enh	HepG2	liver
21	chr12:122458600-122459400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr12:122458600-122459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:122458600-122459400	Flanking Active TSS	Fetal Thymus	thymus
24	chr12:122458600-122459400	Flanking Active TSS	NHEK	skin
25	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:122458600-122459600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:122458800-122459000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr12:122458800-122459000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:122458800-122459000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:122458800-122459000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:122458800-122459000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:122458800-122459000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:122458800-122459000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:122458800-122459000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:122458800-122459000	Enhancers	Primary T cells from cord blood	blood
38	chr12:122458800-122459000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr12:122458800-122459000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:122458800-122459000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:122458800-122459000	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr12:122458800-122459000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:122458800-122459000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr12:122458800-122459000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr12:122458800-122459000	Bivalent/Poised TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:122458800-122459000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
47	chr12:122458800-122459000	Enhancers	Muscle Satellite Cultured Cells	--
48	chr12:122458800-122459000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:122458800-122459000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:122458800-122459000	Enhancers	Adipose Nuclei	Adipose

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