Variant report

Variant	rs73397885
Chromosome Location	chr18:11752498-11752499
allele	C/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	MYC	chr18:11752412-11752555	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr18:11752136-11752584	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr18:11752165-11752851	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr18:11752261-11752628	H1-hESC	embryonic stem cell:	n/a	n/a
5	TBP	chr18:11752385-11752968	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr18:11752242-11752593	H1-neurons	neurons:	n/a	n/a
7	E2F6	chr18:11752236-11752771	A549	lung:	n/a	n/a
8	MAX	chr18:11752104-11752808	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr18:11751934-11753335	H1-neurons	neurons:	n/a	n/a
10	GTF2F1	chr18:11752316-11752527	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr18:11751453-11752846	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr18:11752264-11752515	H1-hESC	embryonic stem cell:	n/a	n/a
13	SIN3A	chr18:11751920-11752848	H1-hESC	embryonic stem cell:	n/a	chr18:11752710-11752723 chr18:11752041-11752054
14	MAX	chr18:11752158-11752856	A549	lung:	n/a	n/a
15	E2F6	chr18:11752172-11752973	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr18:11752266-11752575	H1-hESC	embryonic stem cell:	n/a	n/a
17	TEAD4	chr18:11752236-11752632	H1-hESC	embryonic stem cell:	n/a	chr18:11752393-11752402
18	ZNF143	chr18:11751377-11752805	H1-hESC	embryonic stem cell:	n/a	chr18:11751718-11751736
19	TEAD4	chr18:11752260-11752531	H1-hESC	embryonic stem cell:	n/a	chr18:11752393-11752402
20	MAX	chr18:11752240-11752652	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF2	chr18:11752382-11752542	H1-hESC	embryonic stem cell:	n/a	n/a
22	E2F6	chr18:11752228-11752660	A549	lung:	n/a	n/a
23	MAX	chr18:11752248-11752737	A549	lung:	n/a	n/a
24	GABPA	chr18:11752284-11752729	H1-hESC	embryonic stem cell:	n/a	chr18:11752591-11752600 chr18:11752652-11752661
25	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]
rs13380905	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60769119	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60956367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7237586	0.83[EUR][1000 genomes]
rs73397871	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397878	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397879	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397882	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397900	1.00[AFR][1000 genomes];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:96 , 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	chr18:11751200-11752800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr18:11751200-11752800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr18:11751200-11753000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
5	chr18:11751200-11753200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr18:11751200-11753200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr18:11751200-11753200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr18:11751400-11752800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr18:11751400-11752800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr18:11751400-11753000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr18:11751400-11753000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr18:11751400-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr18:11751400-11753000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr18:11751400-11753200	Enhancers	Liver	Liver
15	chr18:11751600-11752600	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:11751600-11752800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr18:11751600-11752800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:11751600-11752800	Bivalent/Poised TSS	Thymus	Thymus
19	chr18:11751600-11753000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr18:11751600-11753000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr18:11751600-11753000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr18:11751600-11753000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
23	chr18:11751600-11753000	Bivalent/Poised TSS	Ovary	ovary
24	chr18:11751600-11753000	Bivalent/Poised TSS	Psoas Muscle	Psoas
25	chr18:11751600-11753000	Active TSS	Rectal Smooth Muscle	rectum
26	chr18:11751600-11753000	Active TSS	Right Atrium	heart
27	chr18:11751600-11753200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr18:11751600-11753200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr18:11751600-11756200	Active TSS	Brain Anterior Caudate	brain
30	chr18:11751800-11752600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
31	chr18:11751800-11752600	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
32	chr18:11751800-11752600	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr18:11751800-11752800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
34	chr18:11751800-11753000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr18:11751800-11753000	Active TSS	Gastric	stomach
36	chr18:11752000-11752600	Active TSS	Aorta	Aorta
37	chr18:11752000-11752600	Flanking Active TSS	Esophagus	oesophagus
38	chr18:11752000-11752800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:11752000-11752800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr18:11752000-11752800	Active TSS	Colon Smooth Muscle	Colon
41	chr18:11752000-11753000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
42	chr18:11752000-11753000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
43	chr18:11752000-11753000	Flanking Active TSS	Pancreas	Pancrea
44	chr18:11752000-11753200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr18:11752000-11753200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
46	chr18:11752200-11752600	Enhancers	Primary T helper naive cells from peripheral blood	blood
47	chr18:11752200-11752600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:11752200-11752600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr18:11752200-11752600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr18:11752200-11752600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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