Variant report

Variant	rs13380905
Chromosome Location	chr18:11751967-11751968
allele	C/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	MAX	chr18:11751190-11752028	H1-hESC	embryonic stem cell:	n/a	chr18:11751452-11751461 chr18:11751854-11751864
2	CTCF	chr18:11751820-11751970	SAEC	small airway:	n/a	n/a
3	MAX	chr18:11751178-11752023	H1-hESC	embryonic stem cell:	n/a	chr18:11751452-11751461 chr18:11751854-11751864
4	POLR2A	chr18:11751934-11753335	H1-neurons	neurons:	n/a	n/a
5	CTBP2	chr18:11751453-11752846	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr18:11751920-11752848	H1-hESC	embryonic stem cell:	n/a	chr18:11752710-11752723 chr18:11752041-11752054
7	ZNF143	chr18:11751377-11752805	H1-hESC	embryonic stem cell:	n/a	chr18:11751718-11751736
8	GABPA	chr18:11751677-11752137	H1-hESC	embryonic stem cell:	n/a	n/a
9	CCNT2	chr18:11751637-11752115	K562	blood:	n/a	n/a
10	E2F6	chr18:11751164-11752869	H1-hESC	embryonic stem cell:	n/a	chr18:11752011-11752020 chr18:11751307-11751322

Variant related genes	Relation type
GNAL	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs60769119	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60956367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237586	0.83[EUR][1000 genomes]
rs73397871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397878	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397881	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397898	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9945241	0.83[EUR][1000 genomes]
rs9947140	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS 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
2	nsv1065382	chr18:11723230-11769732	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11751000-11753200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr18:11751200-11752000	Bivalent Enhancer	Fetal Stomach	stomach
3	chr18:11751200-11752000	Enhancers	Pancreas	Pancrea
4	chr18:11751200-11752200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr18:11751200-11752200	Enhancers	Fetal Brain Male	brain
6	chr18:11751200-11752200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr18:11751200-11752200	Enhancers	Spleen	Spleen
8	chr18:11751200-11752400	Bivalent Enhancer	Lung	lung
9	chr18:11751200-11752800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:11751200-11752800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr18:11751200-11753000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr18:11751200-11753200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr18:11751200-11753200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr18:11751200-11753200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr18:11751400-11752000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
16	chr18:11751400-11752000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
17	chr18:11751400-11752000	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
18	chr18:11751400-11752000	Bivalent Enhancer	NHEK	skin
19	chr18:11751400-11752200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr18:11751400-11752200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr18:11751400-11752200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr18:11751400-11752200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr18:11751400-11752200	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr18:11751400-11752400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr18:11751400-11752400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
26	chr18:11751400-11752800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr18:11751400-11752800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr18:11751400-11753000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr18:11751400-11753000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr18:11751400-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr18:11751400-11753000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:11751400-11753200	Enhancers	Liver	Liver
33	chr18:11751600-11752000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:11751600-11752000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr18:11751600-11752000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr18:11751600-11752000	Active TSS	Esophagus	oesophagus
37	chr18:11751600-11752200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
38	chr18:11751600-11752400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr18:11751600-11752400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr18:11751600-11752400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
41	chr18:11751600-11752400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr18:11751600-11752400	Bivalent/Poised TSS	Left Ventricle	heart
43	chr18:11751600-11752600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
44	chr18:11751600-11752800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr18:11751600-11752800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr18:11751600-11752800	Bivalent/Poised TSS	Thymus	Thymus
47	chr18:11751600-11753000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr18:11751600-11753000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:11751600-11753000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr18:11751600-11753000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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