Variant report

Variant	rs3735023
Chromosome Location	chr7:137801770-137801771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:137801681-137801977	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:137801682-137802016	HepG2	liver:	n/a	n/a
3	RAD21	chr7:137801677-137801957	HepG2	liver:	n/a	n/a
4	MAX	chr7:137801589-137802076	HepG2	liver:	n/a	n/a
5	GATA2	chr7:137801665-137801976	SH-SY5Y	brain:	n/a	n/a
6	GATA3	chr7:137801674-137802093	SH-SY5Y	brain:	n/a	n/a
7	FOXA2	chr7:137801628-137802011	HepG2	liver:	n/a	n/a
8	HNF4A	chr7:137801662-137801951	HepG2	liver:	n/a	n/a
9	CEBPB	chr7:137801708-137801991	HepG2	liver:	n/a	n/a
10	CHD2	chr7:137801712-137801912	HepG2	liver:	n/a	n/a
11	NFIC	chr7:137801606-137802062	HepG2	liver:	n/a	n/a
12	TEAD4	chr7:137801418-137802052	HepG2	liver:	n/a	n/a
13	ELF1	chr7:137801732-137802077	HepG2	liver:	n/a	n/a
14	SP1	chr7:137801530-137802085	HepG2	liver:	n/a	n/a
15	MYBL2	chr7:137801582-137802199	HepG2	liver:	n/a	n/a
16	EP300	chr7:137800815-137802277	SK-N-SH	brain:	n/a	chr7:137801216-137801230
17	NFIC	chr7:137801550-137802051	HepG2	liver:	n/a	n/a
18	EP300	chr7:137801594-137801954	HepG2	liver:	n/a	n/a
19	HNF4G	chr7:137801635-137802015	HepG2	liver:	n/a	n/a
20	HNF4A	chr7:137801637-137801936	HepG2	liver:	n/a	n/a
21	HDAC2	chr7:137801596-137801973	HepG2	liver:	n/a	n/a
22	FOXA1	chr7:137801510-137802081	HepG2	liver:	n/a	n/a
23	GATA3	chr7:137801602-137802047	T-47D	breast:	n/a	n/a
24	FOXA1	chr7:137801649-137802092	HepG2	liver:	n/a	n/a
25	MYC	chr7:137801710-137801913	HepG2	liver:	n/a	n/a
26	EP300	chr7:137801601-137802140	HepG2	liver:	n/a	n/a
27	MAX	chr7:137801475-137802148	HepG2	liver:	n/a	n/a
28	ELF1	chr7:137801656-137802045	HepG2	liver:	n/a	n/a
29	FOXA1	chr7:137801617-137802097	HepG2	liver:	n/a	n/a
30	MYBL2	chr7:137801525-137802095	HepG2	liver:	n/a	n/a
31	MAX	chr7:137801719-137801928	HepG2	liver:	n/a	n/a
32	MBD4	chr7:137801520-137802138	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000239145	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10236161	0.95[ASN][1000 genomes]
rs12670239	0.90[ASN][1000 genomes]
rs17543126	0.90[ASN][1000 genomes]
rs2306846	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3805362	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs3857869	0.90[ASN][1000 genomes]
rs3902226	0.90[ASN][1000 genomes]
rs73155736	0.83[ASN][1000 genomes]
rs73155740	0.90[ASN][1000 genomes]
rs73155744	0.91[ASN][1000 genomes]
rs73155745	0.90[ASN][1000 genomes]
rs73155746	0.95[ASN][1000 genomes]
rs7783021	0.90[ASN][1000 genomes]
rs7797080	0.90[ASN][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	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv831151	chr7:137711447-137865471	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3735023	PTN	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137782800-137802400	Strong transcription	Liver	Liver
2	chr7:137798600-137803800	Weak transcription	Right Atrium	heart
3	chr7:137800600-137802000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:137800600-137802000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:137800600-137802200	Enhancers	Fetal Intestine Small	intestine
6	chr7:137801000-137801800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:137801000-137802200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr7:137801000-137802400	Enhancers	HepG2	liver
9	chr7:137801200-137802200	Enhancers	Fetal Intestine Large	intestine
10	chr7:137801600-137801800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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