Variant report

Variant	rs79411402
Chromosome Location	chr12:121078088-121078089
allele	C/G/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	chr12:121078064-121078438	K562	blood:	n/a	n/a
2	CTCF	chr12:121077432-121078631	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
3	CTCF	chr12:121078047-121078476	H1-hESC	embryonic stem cell:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
4	E2F6	chr12:121077952-121078382	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr12:121077980-121078130	HFF-Myc	foreskin:	n/a	n/a
6	GABPA	chr12:121078083-121078584	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:121078071-121078487	MCF-7	breast:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
8	CTCF	chr12:121078012-121078458	K562	blood:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
9	MAX	chr12:121078047-121078513	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr12:121077940-121078090	MCF-7	breast:	n/a	n/a
11	MAX	chr12:121077904-121078610	K562	blood:	n/a	n/a
12	TEAD4	chr12:121077650-121078209	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr12:121078037-121078527	HepG2	liver:	n/a	n/a
14	MAX	chr12:121077928-121078598	A549	lung:	n/a	n/a
15	MAX	chr12:121077928-121078555	A549	lung:	n/a	n/a
16	MAX	chr12:121078061-121078524	ECC-1	luminal epithelium:	n/a	n/a
17	ELF1	chr12:121078079-121078492	HepG2	liver:	n/a	chr12:121078317-121078326 chr12:121078208-121078217 chr12:121078455-121078467 chr12:121078414-121078423
18	MAX	chr12:121078052-121078538	HepG2	liver:	n/a	n/a
19	MAX	chr12:121077895-121078614	HCT-116	colon:	n/a	n/a
20	POLR2A	chr12:121078073-121078451	Raji	blood:	n/a	n/a
21	ZBTB7A	chr12:121078004-121078536	ECC-1	luminal epithelium:	n/a	chr12:121078420-121078429
22	MXI1	chr12:121077992-121078331	H1-hESC	embryonic stem cell:	n/a	n/a
23	ELF1	chr12:121078068-121078563	K562	blood:	n/a	chr12:121078317-121078326 chr12:121078208-121078217 chr12:121078455-121078467 chr12:121078414-121078423
24	MYC	chr12:121077962-121078504	A549	lung:	n/a	n/a
25	SIN3AK20	chr12:121077908-121078466	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELF1	chr12:121077783-121078551	GM12878	blood:	n/a	chr12:121078317-121078326 chr12:121078208-121078217 chr12:121078455-121078467 chr12:121078414-121078423
27	JUND	chr12:121078050-121078321	H1-hESC	embryonic stem cell:	n/a	n/a
28	YY1	chr12:121078058-121078517	HepG2	liver:	n/a	n/a
29	E2F6	chr12:121078032-121078571	A549	lung:	n/a	chr12:121078441-121078451
30	RAD21	chr12:121077586-121078574	H1-hESC	embryonic stem cell:	n/a	chr12:121078305-121078318
31	MAX	chr12:121078020-121078556	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr12:121077980-121078130	HCFaa	heart:	n/a	n/a
33	CTCF	chr12:121078020-121078170	A549	lung:	n/a	n/a
34	POLR2A	chr12:121078063-121078540	HCT-116	colon:	n/a	n/a
35	YY1	chr12:121078021-121078444	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr12:121077666-121079638	H1-hESC	embryonic stem cell:	n/a	chr12:121078405-121078418 chr12:121079275-121079288
37	CTCF	chr12:121077940-121078090	Caco-2	colon:	n/a	n/a
38	CREB1	chr12:121077848-121078507	H1-hESC	embryonic stem cell:	n/a	n/a
39	ATF2	chr12:121077955-121078341	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAX	chr12:121077939-121078609	HCT-116	colon:	n/a	n/a
41	GABPA	chr12:121077960-121078483	K562	blood:	n/a	n/a
42	MAX	chr12:121078000-121078505	MCF-7	breast:	n/a	n/a
43	ZNF263	chr12:121077610-121079764	HEK293-T-REx	kidney:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
44	CTCF	chr12:121078040-121078330	HRE	kidney:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
45	POLR2A	chr12:121078058-121078502	HCT-116	colon:	n/a	n/a
46	ZNF143	chr12:121078003-121078385	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF2	chr12:121077969-121078324	H1-hESC	embryonic stem cell:	n/a	n/a
48	TEAD4	chr12:121077838-121078479	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr12:121077632-121078448	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr12:121077742-121078525	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
2	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
3	chr12:121077883..121078713-chr12:121409304..121410103,2	MCF-7	breast:
4	chr12:121019025..121020943-chr12:121076838..121078875,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POP5-1	chr12:121077853-121078306	NONHSAT031188

Variant related genes	Relation type
ENSG00000256008	TF binding region
CABP1	TF binding region
ENSG00000157782	Chromatin interaction
ENSG00000272214	Chromatin interaction
ENSG00000110917	Chromatin interaction
ENSG00000167272	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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3334570	chr12:121077719-121079967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121077400-121078200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:121077600-121078200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121077600-121078200	Bivalent Enhancer	Fetal Lung	lung
4	chr12:121077600-121078400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
5	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain
7	chr12:121077800-121078200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr12:121077800-121078200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr12:121077800-121078200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:121077800-121078200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:121077800-121078200	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr12:121077800-121078200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
13	chr12:121077800-121078200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
14	chr12:121077800-121078200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:121077800-121078200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:121077800-121078200	Bivalent Enhancer	Aorta	Aorta
17	chr12:121077800-121078200	Bivalent Enhancer	Liver	Liver
18	chr12:121077800-121078200	Active TSS	Brain Anterior Caudate	brain
19	chr12:121077800-121078200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:121077800-121078200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr12:121077800-121078200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
22	chr12:121077800-121078200	Flanking Bivalent TSS/Enh	A549	lung
23	chr12:121077800-121078200	Flanking Bivalent TSS/Enh	HepG2	liver
24	chr12:121077800-121078200	Flanking Bivalent TSS/Enh	K562	blood
25	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr12:121077800-121078400	Bivalent Enhancer	Placenta	Placenta
29	chr12:121077800-121078400	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr12:121077800-121078400	Flanking Bivalent TSS/Enh	Dnd41	blood
31	chr12:121077800-121078600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:121077800-121078600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr12:121077800-121079000	Bivalent/Poised TSS	Colonic Mucosa	Colon
34	chr12:121077800-121079200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:121077800-121079200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr12:121077800-121079400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
37	chr12:121077800-121079400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
38	chr12:121077800-121079600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr12:121077800-121079600	Flanking Bivalent TSS/Enh	Thymus	Thymus
40	chr12:121078000-121078200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
41	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
45	chr12:121078000-121078200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
47	chr12:121078000-121078200	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
49	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
50	chr12:121078000-121078200	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--

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