Variant report

Variant	rs78765749
Chromosome Location	chr12:58148368-58148369
allele	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	chr12:58148242-58148861	K562	blood:	n/a	n/a
2	STAT3	chr12:58148131-58148428	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr12:58148160-58148790	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:58148359-58148827	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:58148048-58149108	H1-neurons	neurons:	n/a	n/a
6	JUND	chr12:58148167-58148778	K562	blood:	n/a	n/a
7	CHD2	chr12:58148171-58148765	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB7A	chr12:58148328-58150191	ECC-1	luminal epithelium:	n/a	chr12:58149222-58149231 chr12:58149015-58149023
9	CUX1	chr12:58148169-58148633	K562	blood:	n/a	n/a
10	RCOR1	chr12:58148149-58148743	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr12:58148308-58149037	SK-N-MC	brain:	n/a	n/a
12	MAZ	chr12:58148352-58149685	IMR90	lung:	n/a	chr12:58149254-58149264
13	POLR2A	chr12:58148273-58149091	Raji	blood:	n/a	n/a
14	MAX	chr12:58148128-58149095	ECC-1	luminal epithelium:	n/a	n/a
15	REST	chr12:58148027-58149365	H1-neurons	neurons:	n/a	chr12:58149045-58149055 chr12:58148029-58148038 chr12:58148716-58148729 chr12:58148719-58148732 chr12:58149019-58149032
16	MAZ	chr12:58148241-58149884	K562	blood:	n/a	chr12:58149254-58149264
17	MYC	chr12:58148125-58148792	K562	blood:	n/a	n/a
18	MAZ	chr12:58148242-58149001	Hela-S3	cervix:	n/a	n/a
19	NRF1	chr12:58147820-58148990	SK-N-SH	brain:	n/a	n/a
20	SIN3A	chr12:58148095-58148765	H1-hESC	embryonic stem cell:	n/a	chr12:58148739-58148750
21	HEY1	chr12:58148321-58148777	HepG2	liver:	n/a	chr12:58148728-58148743
22	CCNT2	chr12:58148217-58149059	K562	blood:	n/a	chr12:58148712-58148721
23	SRF	chr12:58147950-58148799	ECC-1	luminal epithelium:	n/a	chr12:58148217-58148228 chr12:58148214-58148232 chr12:58148217-58148234 chr12:58148216-58148229 chr12:58148217-58148231 chr12:58148218-58148232 chr12:58148214-58148228
24	RCOR1	chr12:58148183-58148926	K562	blood:	n/a	n/a
25	MAX	chr12:58148366-58148796	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:58148223-58148792	HepG2	liver:	n/a	n/a
27	POLR2A	chr12:58148075-58149073	H1-neurons	neurons:	n/a	n/a
28	CTBP2	chr12:58148202-58148726	H1-hESC	embryonic stem cell:	n/a	n/a
29	MAX	chr12:58148128-58148955	MCF-7	breast:	n/a	n/a
30	TAF1	chr12:58148276-58148708	H1-neurons	neurons:	n/a	n/a
31	STAT3	chr12:58148149-58148450	MCF10A-Er-Src	breast:	n/a	n/a
32	BHLHE40	chr12:58148315-58148857	K562	blood:	n/a	n/a
33	RCOR1	chr12:58148353-58148779	K562	blood:	n/a	n/a
34	ZNF143	chr12:58148138-58148686	H1-hESC	embryonic stem cell:	n/a	chr12:58148320-58148339
35	POLR2A	chr12:58148206-58148857	K562	blood:	n/a	n/a
36	MAZ	chr12:58148272-58150890	GM12878	blood:	n/a	chr12:58149254-58149264
37	WRNIP1	chr12:58148216-58148662	GM12878	blood:	n/a	n/a
38	SP1	chr12:58148074-58148775	H1-hESC	embryonic stem cell:	n/a	chr12:58148710-58148722 chr12:58148712-58148721 chr12:58148325-58148339 chr12:58148676-58148690 chr12:58148710-58148722 chr12:58148711-58148720
39	RFX5	chr12:58148351-58148715	Hela-S3	cervix:	n/a	n/a
40	STAT3	chr12:58148108-58148436	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr12:58148082-58148797	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57914860..57917603-chr12:58144909..58148802,3	K562	blood:
2	chr12:58146971..58149952-chr17:56735164..56736689,2	MCF-7	breast:
3	chr12:57912818..57918945-chr12:58145879..58149998,6	MCF-7	breast:
4	chr12:58148177..58150864-chr12:58195789..58197895,2	MCF-7	breast:
5	chr12:58146595..58149356-chr12:58175469..58178051,2	K562	blood:
6	chr12:58147914..58149817-chr12:124454309..124457254,2	MCF-7	breast:
7	chr12:57909291..57914221-chr12:58144639..58148673,6	K562	blood:

Variant related genes	Relation type
CDK4	TF binding region
MARCH9	TF binding region
ENSG00000208028	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000270061	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000270039	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000175197	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
9	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
10	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3374332	chr12:58147710-58151058	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
12	esv3347201	chr12:58148060-58150608	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58146200-58148400	Weak transcription	Small Intestine	intestine
2	chr12:58146200-58148600	Weak transcription	Aorta	Aorta
3	chr12:58146400-58148800	Flanking Active TSS	K562	blood
4	chr12:58146600-58148400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:58146600-58148400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:58146800-58148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:58146800-58148400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:58146800-58148400	Weak transcription	Ovary	ovary
9	chr12:58147000-58148800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:58147200-58148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:58147400-58148400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:58147600-58148400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr12:58147600-58148400	Enhancers	Placenta	Placenta
14	chr12:58147600-58148600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:58147800-58148400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:58147800-58148400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr12:58147800-58148400	Enhancers	Right Ventricle	heart
18	chr12:58147800-58148600	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr12:58147800-58148600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:58148000-58148400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:58148000-58148400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:58148000-58148400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr12:58148000-58148400	Enhancers	Liver	Liver
24	chr12:58148000-58148400	Enhancers	Colon Smooth Muscle	Colon
25	chr12:58148000-58148400	Enhancers	Stomach Mucosa	stomach
26	chr12:58148000-58148600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr12:58148000-58148600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
28	chr12:58148000-58148600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr12:58148000-58148600	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:58148000-58148600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr12:58148000-58148600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr12:58148000-58148600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:58148000-58148600	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr12:58148000-58148600	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr12:58148000-58148600	Flanking Bivalent TSS/Enh	A549	lung
36	chr12:58148000-58148600	Flanking Active TSS	Hela-S3	cervix
37	chr12:58148000-58148800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
38	chr12:58148000-58148800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr12:58148000-58148800	Flanking Active TSS	Dnd41	blood
40	chr12:58148000-58149800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:58148200-58148400	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr12:58148200-58148400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr12:58148200-58148400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:58148200-58148400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:58148200-58148400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:58148200-58148400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:58148200-58148400	Enhancers	Adipose Nuclei	Adipose
48	chr12:58148200-58148400	Enhancers	Brain Cingulate Gyrus	brain
49	chr12:58148200-58148400	Enhancers	Esophagus	oesophagus
50	chr12:58148200-58148400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links