Variant report

Variant	rs561631460
Chromosome Location	chr12:122687709-122687710
allele	A/C
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	MXI1	chr12:122687489-122689016	SK-N-SH	brain:	n/a	chr12:122688411-122688426
2	MAX	chr12:122687673-122688732	A549	lung:	n/a	chr12:122688247-122688257
3	MAX	chr12:122687708-122688608	HepG2	liver:	n/a	chr12:122688247-122688257
4	MAX	chr12:122687687-122688755	ECC-1	luminal epithelium:	n/a	chr12:122688247-122688257
5	TCF12	chr12:122687587-122688190	A549	lung:	n/a	n/a
6	MAX	chr12:122687687-122688668	K562	blood:	n/a	chr12:122688247-122688257
7	MAX	chr12:122687694-122688634	H1-hESC	embryonic stem cell:	n/a	chr12:122688247-122688257
8	MAX	chr12:122687690-122688609	A549	lung:	n/a	chr12:122688247-122688257
9	POLR2A	chr12:122687705-122688325	PFSK-1	brain:	n/a	n/a
10	MYC	chr12:122687613-122688422	A549	lung:	n/a	chr12:122688247-122688257
11	E2F6	chr12:122687529-122688660	A549	lung:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
12	POLR2A	chr12:122687689-122688454	SK-N-MC	brain:	n/a	n/a
13	EP300	chr12:122686053-122688248	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr12:122687544-122688462	A549	lung:	n/a	n/a
15	E2F6	chr12:122687590-122688544	H1-hESC	embryonic stem cell:	n/a	chr12:122688480-122688490 chr12:122688016-122688027
16	POLR2A	chr12:122687698-122688615	K562	blood:	n/a	n/a
17	MAX	chr12:122687705-122688656	HepG2	liver:	n/a	chr12:122688247-122688257
18	EGR1	chr12:122687623-122688613	HCT-116	colon:	n/a	chr12:122688201-122688211 chr12:122688202-122688213 chr12:122687955-122687969 chr12:122688250-122688261 chr12:122688247-122688257 chr12:122688201-122688214 chr12:122688200-122688214 chr12:122688248-122688263 chr12:122688201-122688214 chr12:122688202-122688211 chr12:122688249-122688262 chr12:122688201-122688214 chr12:122688022-122688033 chr12:122688200-122688215 chr12:122687989-122688003 chr12:122688201-122688214 chr12:122688021-122688034
19	MAX	chr12:122687610-122688630	ECC-1	luminal epithelium:	n/a	chr12:122688247-122688257
20	GATA2	chr12:122687708-122688080	SH-SY5Y	brain:	n/a	n/a
21	NRF1	chr12:122687547-122688341	SK-N-SH	brain:	n/a	chr12:122687969-122687980 chr12:122688248-122688257
22	MAX	chr12:122687600-122688657	HCT-116	colon:	n/a	chr12:122688247-122688257
23	HA-E2F1	chr12:122687705-122688162	MCF-7	breast:	n/a	n/a
24	POLR2A	chr12:122687679-122688489	HCT-116	colon:	n/a	n/a
25	GATA3	chr12:122687706-122688097	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:122686753..122691904-chr12:122708300..122712516,9	MCF-7	breast:
2	chr12:122459108..122461135-chr12:122685513..122688465,2	K562	blood:
3	chr12:122459025..122460608-chr12:122685513..122688221,2	K562	blood:
4	chr12:122614284..122615813-chr12:122686761..122688798,2	MCF-7	breast:
5	chr12:122612652..122615876-chr12:122685490..122688136,3	K562	blood:
6	chr12:122685663..122693033-chr12:122702446..122708793,8	K562	blood:
7	chr12:122684854..122691366-chr12:122708809..122712343,7	K562	blood:

Variant related genes	Relation type
B3GNT4	TF binding region
ENSG00000110987	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000175727	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	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	nsv1038827	chr12:122627371-122687913	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv3363771	chr12:122687274-122690547	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122687000-122687800	Enhancers	Primary T helper naive cells from peripheral blood	blood
2	chr12:122687000-122687800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr12:122687200-122687800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:122687200-122687800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:122687400-122687800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122687400-122687800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
7	chr12:122687400-122687800	Enhancers	Liver	Liver
8	chr12:122687400-122687800	Bivalent Enhancer	Colonic Mucosa	Colon
9	chr12:122687400-122687800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
10	chr12:122687400-122687800	Enhancers	Esophagus	oesophagus
11	chr12:122687400-122687800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
12	chr12:122687400-122687800	Bivalent Enhancer	Fetal Thymus	thymus
13	chr12:122687400-122687800	Enhancers	Gastric	stomach
14	chr12:122687400-122687800	Enhancers	Lung	lung
15	chr12:122687400-122687800	Bivalent/Poised TSS	Ovary	ovary
16	chr12:122687400-122687800	Enhancers	Pancreas	Pancrea
17	chr12:122687400-122687800	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
18	chr12:122687400-122687800	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr12:122687400-122687800	Enhancers	Spleen	Spleen
20	chr12:122687400-122688000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr12:122687400-122688000	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
22	chr12:122687400-122688000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr12:122687400-122688000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr12:122687400-122688000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr12:122687400-122688000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr12:122687400-122688000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:122687400-122688000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:122687400-122688000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:122687400-122688000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
30	chr12:122687400-122688000	Transcr. at gene 5' and 3'	Right Atrium	heart
31	chr12:122687400-122688200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
32	chr12:122687400-122688600	Active TSS	Brain Hippocampus Middle	brain
33	chr12:122687400-122688600	Active TSS	K562	blood
34	chr12:122687400-122689200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr12:122687400-122689200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr12:122687400-122689600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:122687400-122690000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
38	chr12:122687600-122687800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:122687600-122687800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:122687600-122687800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:122687600-122687800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr12:122687600-122687800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:122687600-122687800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:122687600-122687800	Active TSS	Placenta Amnion	Placenta Amnion
45	chr12:122687600-122687800	Bivalent/Poised TSS	Thymus	Thymus
46	chr12:122687600-122687800	Bivalent Enhancer	GM12878-XiMat	blood
47	chr12:122687600-122687800	Bivalent Enhancer	Osteobl	bone
48	chr12:122687600-122688000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
50	chr12:122687600-122688000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood

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