Variant report

Variant	rs79564340
Chromosome Location	chr12:50898435-50898436
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	MAX	chr12:50898316-50899632	A549	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
2	RAD21	chr12:50898232-50899903	HCT-116	colon:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
3	SMC3	chr12:50898258-50900210	SK-N-SH	brain:	n/a	chr12:50898672-50898686
4	FOXM1	chr12:50898346-50899282	GM12878	blood:	n/a	n/a
5	RAD21	chr12:50898249-50899846	HCT-116	colon:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
6	STAT5A	chr12:50898418-50899712	GM12878	blood:	n/a	chr12:50899438-50899450 chr12:50899033-50899045
7	CTCF	chr12:50898328-50899074	HCT-116	colon:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
8	RAD21	chr12:50898424-50899134	SK-N-SH_RA	brain:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
9	CTCF	chr12:50898430-50898842	ECC-1	luminal epithelium:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
10	CTCF	chr12:50898375-50899363	K562	blood:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
11	YY1	chr12:50898413-50899286	H1-hESC	embryonic stem cell:	n/a	chr12:50898743-50898757 chr12:50898746-50898755 chr12:50898913-50898933
12	SMC3	chr12:50898401-50900100	Hela-S3	cervix:	n/a	chr12:50898672-50898686
13	CTCF	chr12:50898172-50899934	A549	lung:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
14	RUNX3	chr12:50898334-50899547	GM12878	blood:	n/a	n/a
15	ELK4	chr12:50898433-50899158	Hela-S3	cervix:	n/a	n/a
16	RAD21	chr12:50898171-50900817	SK-N-SH	brain:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
17	REST	chr12:50898310-50900246	H1-neurons	neurons:	n/a	chr12:50899033-50899046
18	MAZ	chr12:50898236-50899606	IMR90	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
19	TCF12	chr12:50898222-50899909	A549	lung:	n/a	n/a
20	USF1	chr12:50898388-50899237	SK-N-SH	brain:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
21	MXI1	chr12:50898269-50900337	SK-N-SH	brain:	n/a	chr12:50898766-50898775
22	MAX	chr12:50898233-50899751	A549	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
23	CBX3	chr12:50898416-50899047	K562	blood:	n/a	n/a
24	RAD21	chr12:50898299-50899155	HepG2	liver:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
25	ZBTB7A	chr12:50898225-50899643	ECC-1	luminal epithelium:	n/a	chr12:50899285-50899299
26	MAX	chr12:50898382-50899665	HepG2	liver:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
27	CTCF	chr12:50898395-50898926	A549	lung:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
28	RAD21	chr12:50898416-50898885	GM12878	blood:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
29	MAX	chr12:50898425-50899706	ECC-1	luminal epithelium:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
30	MYBL2	chr12:50898338-50898780	HepG2	liver:	n/a	n/a
31	TAF1	chr12:50898329-50899361	ECC-1	luminal epithelium:	n/a	n/a
32	USF1	chr12:50898429-50899260	ECC-1	luminal epithelium:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
33	CTCF	chr12:50898434-50899239	K562	blood:	n/a	chr12:50898673-50898686 chr12:50898670-50898688 chr12:50898673-50898686 chr12:50898671-50898687 chr12:50898672-50898693
34	TCF12	chr12:50898351-50899519	ECC-1	luminal epithelium:	n/a	n/a
35	MYBL2	chr12:50898361-50898971	HepG2	liver:	n/a	n/a
36	RAD21	chr12:50898377-50899788	SK-N-SH_RA	brain:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
37	USF1	chr12:50898372-50899010	A549	lung:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
38	USF1	chr12:50898427-50899120	K562	blood:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
39	USF1	chr12:50898365-50899073	A549	lung:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
40	USF1	chr12:50898359-50899209	HCT-116	colon:	n/a	chr12:50898764-50898775 chr12:50898763-50898776 chr12:50898765-50898774 chr12:50898766-50898775 chr12:50898765-50898774 chr12:50898759-50898780 chr12:50898819-50898835 chr12:50898764-50898773
41	MAX	chr12:50898427-50899666	H1-hESC	embryonic stem cell:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
42	EP300	chr12:50898323-50899067	A549	lung:	n/a	chr12:50898750-50898759
43	REST	chr12:50898415-50899357	A549	lung:	n/a	chr12:50899033-50899046
44	RAD21	chr12:50898288-50899337	A549	lung:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
45	JUND	chr12:50898415-50899119	H1-hESC	embryonic stem cell:	n/a	chr12:50898745-50898754
46	SP1	chr12:50898378-50899128	A549	lung:	n/a	chr12:50898745-50898757 chr12:50898747-50898756 chr12:50898746-50898755 chr12:50898745-50898757 chr12:50898746-50898756 chr12:50898742-50898756
47	RAD21	chr12:50898342-50898997	A549	lung:	n/a	chr12:50898676-50898688 chr12:50898672-50898686 chr12:50898671-50898690
48	CTCF	chr12:50898340-50898490	GM12865	blood:	n/a	n/a
49	MAX	chr12:50898405-50899686	HepG2	liver:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776
50	MAX	chr12:50898369-50899168	A549	lung:	n/a	chr12:50898739-50898749 chr12:50898765-50898774 chr12:50898763-50898776

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:50898411-50898461	HPAEpiC	pulmonary alveolar:	n/a
2	chr12:50898411-50898461	AG04450	lung:	fetal
3	chr12:50898411-50898461	HepG2	liver:	n/a
4	chr12:50898411-50898461	HMEC	breast:	n/a
5	chr12:50898411-50898461	HNPCEpiC	eye:	n/a
6	chr12:50898411-50898461	AoSMC	blood vessel:	n/a
7	chr12:50898411-50898461	AG09319	gingival:	n/a
8	chr12:50898411-50898461	NT2-D1	testis:	n/a
9	chr12:50898411-50898461	Caco-2	colon:	n/a
10	chr12:50898411-50898461	U87	brain:	n/a
11	chr12:50898411-50898461	GM06990	blood:	n/a
12	chr12:50898411-50898461	HUVEC	blood vessel:	n/a
13	chr12:50898411-50898461	GM19239	blood:	n/a
14	chr12:50898411-50898461	Hela-S3	cervix:	n/a
15	chr12:50898411-50898461	IMR90	lung:	fetal
16	chr12:50898411-50898461	SKMC	muscle:	n/a
17	chr12:50898411-50898461	Hepatocyte	liver:	n/a
18	chr12:50898411-50898461	HRE	kidney:	n/a
19	chr12:50898411-50898461	ovcar-3	ovarian:	n/a
20	chr12:50898411-50898461	LNCaP	prostate:	n/a
21	chr12:50898411-50898461	RPTEC	kidney:	n/a
22	chr12:50898411-50898461	H1-hESC	embryonic stem cell:	embryo
23	chr12:50898411-50898461	AG04449	skin:	fetal
24	chr12:50898411-50898461	SK-N-SH_RA	brain:	n/a
25	chr12:50898411-50898461	SK-N-SH	brain:	n/a
26	chr12:50898411-50898461	HRCEpiC	kidney:	n/a
27	chr12:50898411-50898461	HCM	heart:	n/a
28	chr12:50898411-50898461	SAEC	small airway:	n/a
29	chr12:50898411-50898461	GM12891	blood:	n/a
30	chr12:50898411-50898461	PFSK-1	brain:	n/a
31	chr12:50898411-50898461	MCF10A-Er-Src	breast:	n/a
32	chr12:50898411-50898461	BE2_C	brain:	n/a
33	chr12:50898411-50898461	NHDF-neo	bronchial:	n/a
34	chr12:50898411-50898461	HIPEpiC	eye:	n/a
35	chr12:50898411-50898461	NH-A	brain:	n/a
36	chr12:50898411-50898461	GM12878	blood:	n/a
37	chr12:50898411-50898461	PANC-1	pancreas:	n/a
38	chr12:50898411-50898461	HEEpiC	esophagus:	n/a
39	chr12:50898411-50898461	HEK293	kidney:	embryo
40	chr12:50898411-50898461	HCPEpiC	choroid plexus:	n/a
41	chr12:50898411-50898461	HCT-116	colon:	n/a
42	chr12:50898411-50898461	NB4	blood:	n/a
43	chr12:50898411-50898461	GM12892	blood:	n/a
44	chr12:50898411-50898461	SK-N-MC	brain:	n/a
45	chr12:50898411-50898461	ECC-1	luminal epithelium:	n/a
46	chr12:50898411-50898461	HL-60	blood:	n/a
47	chr12:50898411-50898461	AG10803	skin:	n/a
48	chr12:50898411-50898461	CMK	blood:	n/a
49	chr12:50898411-50898461	AG09309	skin:	n/a
50	chr12:50898411-50898461	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:50897670..50898564-chr12:51035467..51036002,2	K562	blood:
2	chr12:50897008..50898547-chr12:50959691..50961906,2	MCF-7	breast:
3	chr12:50897453..50902823-chr12:51156009..51160960,8	MCF-7	breast:
4	chr12:50897525..50900115-chr12:51025935..51031272,7	MCF-7	breast:
5	chr12:50897096..50898748-chr12:51035347..51039565,3	MCF-7	breast:
6	chr12:50897880..50899909-chr12:51417990..51420226,2	MCF-7	breast:

Variant related genes	Relation type
DIP2B	TF binding region
DIP2B	CpG island
ENSG00000123268	Chromatin interaction
ENSG00000110911	Chromatin interaction
ENSG00000207136	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3395665	chr12:50897710-50900258	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50898000-50898600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:50898200-50898600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr12:50898200-50898600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr12:50898200-50898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:50898200-50898600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:50898200-50898600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:50898200-50898600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr12:50898200-50898600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr12:50898200-50898600	Flanking Active TSS	A549	lung
10	chr12:50898200-50898600	Flanking Active TSS	Dnd41	blood
11	chr12:50898200-50898600	Flanking Active TSS	NHEK	skin
12	chr12:50898200-50898800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:50898200-50898800	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr12:50898200-50899000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:50898200-50899000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:50898200-50899000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:50898200-50899400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:50898200-50899400	Active TSS	Primary hematopoietic stem cells	blood
19	chr12:50898200-50899400	Active TSS	Hela-S3	cervix
20	chr12:50898200-50899400	Active TSS	HUVEC	blood vessel
21	chr12:50898200-50899600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:50898200-50899600	Active TSS	Duodenum Mucosa	Duodenum
23	chr12:50898200-50899600	Active TSS	Rectal Smooth Muscle	rectum
24	chr12:50898200-50899800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:50898200-50899800	Active TSS	Fetal Stomach	stomach
26	chr12:50898200-50899800	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:50898200-50899800	Active TSS	Osteobl	bone
28	chr12:50898200-50900000	Active TSS	Colonic Mucosa	Colon
29	chr12:50898200-50900000	Active TSS	Fetal Intestine Small	intestine
30	chr12:50898200-50900200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr12:50898200-50900400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50898200-50900400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:50898200-50900400	Active TSS	Brain Anterior Caudate	brain
34	chr12:50898200-50900400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr12:50898200-50900400	Active TSS	Placenta	Placenta
36	chr12:50898200-50900800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr12:50898200-50900800	Active TSS	HMEC	breast
38	chr12:50898200-50902200	Active TSS	Brain Angular Gyrus	brain
39	chr12:50898400-50898600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:50898400-50898600	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr12:50898400-50898600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr12:50898400-50898600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr12:50898400-50898600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
44	chr12:50898400-50898600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:50898400-50898600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr12:50898400-50898600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr12:50898400-50898600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:50898400-50898600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:50898400-50898600	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr12:50898400-50898600	Flanking Active TSS	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links