Variant report

Variant	rs545419094
Chromosome Location	chr12:123467451-123467452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123467331-123467664	U87	brain:	n/a	n/a
2	POLR2A	chr12:123467355-123468402	GM12892	blood:	n/a	n/a
3	POLR2A	chr12:123467178-123468063	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr12:123462020-123470019	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr12:123467033-123467609	U87	brain:	n/a	n/a
6	POLR2A	chr12:123466333-123470624	K562	blood:	n/a	n/a
7	POLR2A	chr12:123467028-123467613	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr12:123467027-123467615	U87	brain:	n/a	n/a
9	POLR2A	chr12:123467362-123467951	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr12:123467292-123468736	HCT-116	colon:	n/a	n/a
11	POLR2A	chr12:123467144-123468216	GM12878	blood:	n/a	n/a
12	POLR2A	chr12:123467006-123467459	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr12:123467447-123468502	HepG2	liver:	n/a	n/a
14	RAD21	chr12:123467444-123467671	H1-hESC	embryonic stem cell:	n/a	chr12:123467553-123467572
15	POLR2A	chr12:123467339-123467664	U87	brain:	n/a	n/a
16	POLR2A	chr12:123466896-123469748	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr12:123467205-123469730	HL-60	blood:	n/a	n/a
18	RAD21	chr12:123467325-123467797	H1-hESC	embryonic stem cell:	n/a	chr12:123467553-123467572
19	POLR2A	chr12:123467443-123467904	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr12:123463863-123469964	PFSK-1	brain:	n/a	n/a
21	POLR2A	chr12:123467431-123468257	GM12892	blood:	n/a	n/a
22	POLR2A	chr12:123467006-123468222	HepG2	liver:	n/a	n/a
23	POLR2A	chr12:123466981-123470521	GM12878	blood:	n/a	n/a
24	MAFK	chr12:123467443-123467471	HepG2	liver:	n/a	n/a
25	POLR2A	chr12:123466671-123468302	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr12:123466949-123469534	K562	blood:	n/a	n/a
27	POLR2A	chr12:123466744-123467994	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr12:123467406-123470505	HepG2	liver:	n/a	n/a
29	POLR2A	chr12:123466468-123469539	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr12:123461706-123470094	K562	blood:	n/a	n/a
31	POLR2A	chr12:123466890-123470357	K562	blood:	n/a	n/a
32	POLR2A	chr12:123466605-123467510	K562	blood:	n/a	n/a
33	POLR2A	chr12:123467109-123467585	HepG2	liver:	n/a	n/a
34	POLR2A	chr12:123462647-123470505	Hela-S3	cervix:	n/a	n/a
35	RAD21	chr12:123467399-123467683	HepG2	liver:	n/a	chr12:123467553-123467572

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123464088..123467689-chr12:123493302..123498202,6	MCF-7	breast:
2	chr12:123341647..123346113-chr12:123465146..123467618,4	K562	blood:
3	chr12:123467419..123469042-chr12:123713866..123715628,2	K562	blood:
4	chr12:123467378..123471463-chr12:123484194..123486166,3	MCF-7	breast:
5	chr12:123467368..123470978-chr12:123525099..123527744,3	K562	blood:
6	chr12:123356737..123358240-chr12:123467000..123469929,2	MCF-7	breast:
7	chr12:123463210..123468211-chr12:123716151..123721062,7	MCF-7	breast:
8	chr12:123465824..123467766-chr12:123717384..123719608,2	MCF-7	breast:
9	chr12:123349459..123352177-chr12:123465556..123468107,2	K562	blood:
10	chr12:123465881..123468570-chr12:123716034..123719414,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OGFOD2-1	chr12:123467167-123467460	NR_103512
2	lnc-OGFOD2-1	chr12:123467167-123467453	NONHSAT031551
3	lnc-OGFOD2-1	chr12:123467167-123467461	NONHSAT031554

No data

Variant related genes	Relation type
ABCB9	TF binding region
ENSG00000256152	Chromatin interaction
ENSG00000265526	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv899578	chr12:123459005-123474529	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
13	nsv560493	chr12:123467325-123479623	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123461400-123473200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:123465800-123468200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:123466000-123467600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:123466000-123469800	Enhancers	Fetal Heart	heart
5	chr12:123466200-123467600	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
6	chr12:123466200-123467800	Enhancers	Fetal Brain Male	brain
7	chr12:123466200-123468000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:123466200-123468000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
9	chr12:123466200-123468600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:123466400-123467600	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
11	chr12:123466400-123468000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:123466400-123468000	Weak transcription	Fetal Kidney	kidney
13	chr12:123466400-123468000	Genic enhancers	Stomach Mucosa	stomach
14	chr12:123466400-123468200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:123466400-123468200	Genic enhancers	Placenta Amnion	Placenta Amnion
16	chr12:123466400-123468800	Genic enhancers	K562	blood
17	chr12:123466400-123470200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:123466400-123473400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:123466600-123467600	Enhancers	Left Ventricle	heart
20	chr12:123466600-123467800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:123466600-123468000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:123466600-123468000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:123466600-123468000	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr12:123466600-123468000	Genic enhancers	Fetal Lung	lung
25	chr12:123466600-123468000	Transcr. at gene 5' and 3'	HepG2	liver
26	chr12:123466600-123468200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:123466600-123468200	Genic enhancers	Gastric	stomach
28	chr12:123466600-123468400	Genic enhancers	Esophagus	oesophagus
29	chr12:123466600-123469000	Genic enhancers	Pancreas	Pancrea
30	chr12:123466600-123469200	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr12:123466600-123469400	Enhancers	NHDF-Ad	bronchial
32	chr12:123466600-123469600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123466600-123469800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:123466600-123470000	Genic enhancers	Lung	lung
35	chr12:123466600-123470000	Enhancers	Right Atrium	heart
36	chr12:123466600-123470600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:123466600-123471400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr12:123466600-123483400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:123466800-123467600	Genic enhancers	Primary hematopoietic stem cells	blood
40	chr12:123466800-123468000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr12:123466800-123468000	Genic enhancers	Fetal Brain Female	brain
42	chr12:123466800-123468200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:123466800-123468200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
44	chr12:123466800-123468200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:123466800-123469000	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr12:123466800-123469600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:123466800-123469800	Enhancers	NH-A	brain
48	chr12:123466800-123470000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr12:123466800-123470200	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr12:123466800-123470400	Genic enhancers	Fetal Stomach	stomach

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