Variant report

Variant	rs12607126
Chromosome Location	chr18:29263925-29263926
allele	A/G
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	PML	chr18:29263917-29266204	GM12878	blood:	n/a	n/a
2	MYC	chr18:29263890-29264060	MCF10A-Er-Src	breast:	n/a	n/a
3	CHD1	chr18:29263679-29264362	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F4	chr18:29263892-29264162	MCF10A-Er-Src	breast:	n/a	n/a
5	SIN3A	chr18:29263824-29266100	H1-hESC	embryonic stem cell:	n/a	chr18:29265439-29265452 chr18:29265145-29265158
6	KAP1	chr18:29263693-29264491	HEK293	kidney:	n/a	n/a
7	POLR2A	chr18:29263761-29266391	GM19099	blood:	n/a	n/a
8	ZNF263	chr18:29263898-29265483	HEK293-T-REx	kidney:	n/a	chr18:29264726-29264735 chr18:29264745-29264754
9	WRNIP1	chr18:29263720-29264733	GM12878	blood:	n/a	n/a
10	CHD1	chr18:29263327-29264447	GM12878	blood:	n/a	n/a
11	MTA3	chr18:29263836-29264658	GM12878	blood:	n/a	n/a
12	POLR2A	chr18:29263608-29266533	GM12878	blood:	n/a	n/a
13	RELA	chr18:29263748-29266310	GM12891	blood:	n/a	n/a
14	POLR2A	chr18:29263652-29266352	GM12878	blood:	n/a	n/a
15	POLR2A	chr18:29263662-29267464	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29235239..29238459-chr18:29263541..29266170,4	MCF-7	breast:
2	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

Variant related genes	Relation type
ENSG00000259985	TF binding region
ENSG00000118276	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	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3344706	chr18:29263704-29266352	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
3	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
7	chr18:29260600-29264200	Weak transcription	Lung	lung
8	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
9	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
10	chr18:29261000-29264000	Weak transcription	Stomach Mucosa	stomach
11	chr18:29261000-29264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr18:29261000-29264200	Weak transcription	Gastric	stomach
13	chr18:29261600-29265600	Active TSS	GM12878-XiMat	blood
14	chr18:29262000-29266200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr18:29262400-29265800	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr18:29262600-29264400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr18:29262600-29266400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr18:29262800-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:29262800-29265800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr18:29262800-29265800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr18:29262800-29265800	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr18:29263000-29264600	Flanking Active TSS	Dnd41	blood
23	chr18:29263000-29265600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr18:29263000-29265800	Active TSS	Psoas Muscle	Psoas
25	chr18:29263000-29266000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:29263000-29266400	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr18:29263200-29264000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr18:29263200-29264000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr18:29263200-29264000	Flanking Active TSS	Fetal Brain Female	brain
30	chr18:29263200-29264000	Flanking Active TSS	NHEK	skin
31	chr18:29263200-29264400	Flanking Active TSS	HUVEC	blood vessel
32	chr18:29263200-29265600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr18:29263200-29265600	Active TSS	Primary T cells from cord blood	blood
34	chr18:29263200-29265600	Active TSS	Duodenum Mucosa	Duodenum
35	chr18:29263200-29265800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr18:29263200-29265800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr18:29263200-29266200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:29263200-29266200	Active TSS	Brain Angular Gyrus	brain
39	chr18:29263200-29266200	Active TSS	Brain Cingulate Gyrus	brain
40	chr18:29263200-29266400	Active TSS	Brain Anterior Caudate	brain
41	chr18:29263200-29266400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr18:29263400-29264000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr18:29263400-29264000	Active TSS	Fetal Thymus	thymus
44	chr18:29263400-29264200	Active TSS	Brain Germinal Matrix	brain
45	chr18:29263400-29266200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr18:29263400-29266200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr18:29263600-29264000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr18:29263600-29264000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:29263600-29264000	Flanking Active TSS	Fetal Intestine Large	intestine
50	chr18:29263600-29264000	Enhancers	Fetal Stomach	stomach

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