Variant report

Variant	rs566190653
Chromosome Location	chr2:58655334-58655335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr2:58654857-58655643	H1-hESC	embryonic stem cell:	n/a	n/a
2	YY1	chr2:58655319-58655630	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr2:58654613-58655407	A549	lung:	n/a	n/a
4	POLR2A	chr2:58654580-58656569	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr2:58655291-58655663	NT2-D1	testis:	n/a	n/a
6	POLR2A	chr2:58654370-58656704	H1-hESC	embryonic stem cell:	n/a	n/a
7	HA-E2F1	chr2:58654626-58655583	MCF-7	breast:	n/a	chr2:58654865-58654874
8	MAX	chr2:58654732-58655587	H1-hESC	embryonic stem cell:	n/a	n/a
9	TBP	chr2:58654751-58656508	H1-hESC	embryonic stem cell:	n/a	n/a
10	YY1	chr2:58654669-58655629	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTBP2	chr2:58654675-58655588	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF143	chr2:58655023-58656088	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr2:58654616-58655401	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr2:58655319-58655586	H1-hESC	embryonic stem cell:	n/a	n/a
15	YY1	chr2:58655160-58655590	SK-N-SH_RA	brain:	n/a	n/a
16	TCF12	chr2:58654781-58655414	A549	lung:	n/a	n/a
17	MAX	chr2:58654640-58655337	ECC-1	luminal epithelium:	n/a	n/a
18	FOXA2	chr2:58655197-58655836	A549	lung:	n/a	n/a
19	YY1	chr2:58655216-58655636	SK-N-SH_RA	brain:	n/a	n/a
20	TCF7L2	chr2:58655244-58655581	HEK293	kidney:	n/a	n/a
21	FOXA1	chr2:58655236-58655578	HepG2	liver:	n/a	n/a
22	FOXA1	chr2:58655243-58655593	HepG2	liver:	n/a	n/a
23	RAD21	chr2:58654810-58655530	H1-hESC	embryonic stem cell:	n/a	n/a
24	ZNF263	chr2:58654671-58655421	HEK293-T-REx	kidney:	n/a	n/a
25	TAF1	chr2:58654730-58655655	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr2:58655186-58655623	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr2:58655319-58656192	H1-hESC	embryonic stem cell:	n/a	chr2:58656059-58656069
28	YY1	chr2:58655332-58655648	GM12878	blood:	n/a	n/a
29	POLR2A	chr2:58654783-58657002	H1-neurons	neurons:	n/a	n/a
30	ATF2	chr2:58655084-58655478	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr2:58654544-58655421	A549	lung:	n/a	n/a
32	POLR2A	chr2:58654746-58655651	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr2:58654580-58655502	H1-hESC	embryonic stem cell:	n/a	n/a
34	REST	chr2:58654492-58657191	H1-neurons	neurons:	n/a	chr2:58655773-58655780
35	CHD2	chr2:58654634-58655552	H1-hESC	embryonic stem cell:	n/a	n/a
36	SIN3A	chr2:58654663-58656619	H1-hESC	embryonic stem cell:	n/a	n/a
37	TAF1	chr2:58654701-58655654	H1-hESC	embryonic stem cell:	n/a	n/a
38	SP1	chr2:58654838-58655404	H1-hESC	embryonic stem cell:	n/a	n/a
39	E2F6	chr2:58654666-58655410	A549	lung:	n/a	chr2:58654865-58654874
40	FOXA2	chr2:58655228-58655631	A549	lung:	n/a	n/a
41	POLR2A	chr2:58654759-58656993	H1-neurons	neurons:	n/a	n/a
42	JUND	chr2:58654749-58655515	H1-hESC	embryonic stem cell:	n/a	chr2:58655116-58655124 chr2:58655114-58655125
43	YY1	chr2:58655286-58655600	ECC-1	luminal epithelium:	n/a	n/a
44	POLR2A	chr2:58654689-58655633	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
LINC01122	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755713	chr2:58653580-58782707	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3395723	chr2:58654473-58657321	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
3	esv3323812	chr2:58654573-58657096	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	esv3437316	chr2:58654648-58656446	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58654000-58655400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:58654200-58655400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr2:58654200-58655400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:58654200-58656000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:58654400-58656200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:58654400-58656200	Active TSS	Fetal Stomach	stomach
7	chr2:58654400-58656400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr2:58654400-58656400	Active TSS	Fetal Brain Female	brain
9	chr2:58654400-58656600	Active TSS	NH-A	brain
10	chr2:58654400-58657000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:58654600-58655400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
12	chr2:58654600-58655400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr2:58654600-58655400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:58654600-58655400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr2:58654600-58655400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:58654600-58655400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
17	chr2:58654600-58655600	Active TSS	Hela-S3	cervix
18	chr2:58654600-58656000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:58654600-58656200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:58654600-58656200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:58654600-58656200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:58654600-58656200	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr2:58654600-58656200	Active TSS	Duodenum Mucosa	Duodenum
24	chr2:58654600-58656400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:58654600-58656400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:58654600-58656400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:58654600-58656400	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:58654600-58656400	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr2:58654600-58656400	Active TSS	Ovary	ovary
30	chr2:58654600-58656600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:58654600-58656600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr2:58654600-58656800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr2:58654800-58655400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
34	chr2:58654800-58655400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:58654800-58655400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr2:58654800-58655400	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr2:58654800-58655400	Flanking Bivalent TSS/Enh	HepG2	liver
38	chr2:58654800-58655600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:58654800-58655600	Flanking Bivalent TSS/Enh	Liver	Liver
40	chr2:58654800-58655600	Active TSS	Rectal Mucosa Donor 29	rectum
41	chr2:58654800-58655600	Bivalent/Poised TSS	GM12878-XiMat	blood
42	chr2:58654800-58655800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:58654800-58656000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:58654800-58656000	Active TSS	Thymus	Thymus
45	chr2:58654800-58656200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr2:58654800-58656200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr2:58654800-58656200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:58654800-58656200	Bivalent/Poised TSS	Esophagus	oesophagus
49	chr2:58654800-58656200	Active TSS	Fetal Intestine Small	intestine
50	chr2:58654800-58656200	Active TSS	Pancreatic Islets	Pancreatic Islet

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