Variant report

Variant	rs73986348
Chromosome Location	chr2:208688888-208688889
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	FOXA1	chr2:208688411-208688976	HepG2	liver:	n/a	n/a
2	FOXA2	chr2:208688585-208689002	A549	lung:	n/a	n/a
3	FOXA2	chr2:208688584-208688906	HepG2	liver:	n/a	n/a
4	FOXA1	chr2:208688507-208688996	HepG2	liver:	n/a	n/a
5	FOSL2	chr2:208688514-208688962	HepG2	liver:	n/a	chr2:208688745-208688755 chr2:208688792-208688803 chr2:208688603-208688614
6	FOSL2	chr2:208688426-208688899	A549	lung:	n/a	chr2:208688745-208688755 chr2:208688792-208688803 chr2:208688603-208688614
7	FOXA1	chr2:208688491-208688918	HepG2	liver:	n/a	n/a
8	FOS	chr2:208688592-208688901	MCF10A-Er-Src	breast:	n/a	chr2:208688745-208688755 chr2:208688792-208688803 chr2:208688603-208688614
9	FOXA1	chr2:208688487-208688934	HepG2	liver:	n/a	n/a
10	FOXA2	chr2:208688571-208688934	A549	lung:	n/a	n/a
11	MYC	chr2:208688831-208688899	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000244567	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16840112	1.00[AMR][1000 genomes]
rs55687340	1.00[AMR][1000 genomes]
rs57434067	1.00[AMR][1000 genomes]
rs58524730	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59975915	1.00[AMR][1000 genomes]
rs61312965	1.00[AMR][1000 genomes]
rs73983604	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73983605	1.00[AMR][1000 genomes]
rs73983606	1.00[AMR][1000 genomes]
rs73983639	1.00[AMR][1000 genomes]
rs73983657	1.00[AMR][1000 genomes]
rs73983660	1.00[AMR][1000 genomes]
rs73986306	1.00[AMR][1000 genomes]
rs73986311	1.00[AMR][1000 genomes]
rs73986332	1.00[AMR][1000 genomes]
rs73986349	1.00[AMR][1000 genomes]
rs73986350	1.00[AMR][1000 genomes]
rs73986351	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv875743	chr2:208688648-208940023	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208675400-208693000	Weak transcription	Small Intestine	intestine
2	chr2:208675600-208692200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:208676600-208689200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:208678400-208690800	Weak transcription	Fetal Brain Female	brain
5	chr2:208678600-208691400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:208678600-208695400	Weak transcription	Fetal Brain Male	brain
7	chr2:208679000-208701400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:208679400-208693000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:208680600-208689000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:208680600-208689000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:208680600-208689400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:208680600-208690200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:208680600-208694600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:208680800-208689000	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:208681000-208693200	Weak transcription	Hela-S3	cervix
16	chr2:208682200-208691200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:208683800-208694000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:208684200-208693400	Weak transcription	Gastric	stomach
19	chr2:208684400-208690600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:208684400-208694800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:208684400-208701400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:208684600-208691800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:208684600-208692200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:208684600-208693000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:208684600-208694400	Weak transcription	Colonic Mucosa	Colon
26	chr2:208684600-208701200	Weak transcription	HSMMtube	muscle
27	chr2:208684600-208701600	Weak transcription	Brain Anterior Caudate	brain
28	chr2:208684800-208689200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:208684800-208693200	Weak transcription	Brain Hippocampus Middle	brain
30	chr2:208684800-208693200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:208684800-208693200	Weak transcription	HMEC	breast
32	chr2:208685000-208698000	Weak transcription	Brain Angular Gyrus	brain
33	chr2:208685200-208689200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr2:208685200-208692600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:208685200-208701200	Weak transcription	Fetal Kidney	kidney
36	chr2:208685400-208689000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:208685400-208689200	Weak transcription	Fetal Stomach	stomach
38	chr2:208685400-208689200	Weak transcription	Psoas Muscle	Psoas
39	chr2:208685400-208689200	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr2:208685400-208689400	Weak transcription	Aorta	Aorta
41	chr2:208685400-208690600	Weak transcription	Lung	lung
42	chr2:208685400-208690600	Weak transcription	Pancreas	Pancrea
43	chr2:208685400-208691200	Weak transcription	Spleen	Spleen
44	chr2:208685400-208691200	Weak transcription	K562	blood
45	chr2:208685400-208691400	Enhancers	HepG2	liver
46	chr2:208685400-208691800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:208685400-208692000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:208685400-208698400	Weak transcription	Esophagus	oesophagus
49	chr2:208685400-208701000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr2:208685400-208701200	Weak transcription	Fetal Lung	lung

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