Variant report

Variant	rs62528868
Chromosome Location	chr8:121827450-121827451
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr8:121827287-121827934	HepG2	liver:	n/a	n/a
2	FOSL2	chr8:121827297-121827936	HepG2	liver:	n/a	n/a
3	FOSL2	chr8:121827409-121827823	HepG2	liver:	n/a	n/a
4	MAX	chr8:121827310-121827752	SK-N-SH	brain:	n/a	n/a
5	MBD4	chr8:121827321-121827779	HepG2	liver:	n/a	n/a
6	JUN	chr8:121827439-121827756	HepG2	liver:	n/a	n/a
7	RAD21	chr8:121827445-121827703	HepG2	liver:	n/a	n/a
8	NR3C1	chr8:121827377-121827685	ECC-1	luminal epithelium:	n/a	n/a
9	HEY1	chr8:121827367-121827824	HepG2	liver:	n/a	n/a
10	TEAD4	chr8:121827206-121827908	HepG2	liver:	n/a	n/a
11	FOXA1	chr8:121827333-121827835	HepG2	liver:	n/a	n/a
12	MAFK	chr8:121827396-121827959	HepG2	liver:	n/a	chr8:121827464-121827478 chr8:121827466-121827477 chr8:121827465-121827476 chr8:121827465-121827476
13	ESR1	chr8:121827279-121827738	ECC-1	luminal epithelium:	n/a	n/a
14	SMC3	chr8:121827365-121827845	HepG2	liver:	n/a	n/a
15	ESR1	chr8:121827293-121827750	ECC-1	luminal epithelium:	n/a	n/a
16	MAFF	chr8:121827377-121827782	HepG2	liver:	n/a	n/a
17	FOXA1	chr8:121827335-121827842	HepG2	liver:	n/a	n/a
18	EP300	chr8:121827276-121827943	ECC-1	luminal epithelium:	n/a	n/a
19	TEAD4	chr8:121827274-121827896	ECC-1	luminal epithelium:	n/a	n/a
20	FOXA2	chr8:121827306-121827727	HepG2	liver:	n/a	n/a
21	ESR1	chr8:121827335-121827755	ECC-1	luminal epithelium:	n/a	n/a
22	HEY1	chr8:121827106-121827926	HepG2	liver:	n/a	n/a
23	POLR2A	chr8:121827408-121827776	HepG2	liver:	n/a	n/a
24	MAFK	chr8:121827361-121827680	HepG2	liver:	n/a	chr8:121827464-121827478 chr8:121827466-121827477 chr8:121827465-121827476 chr8:121827465-121827476
25	POLR2A	chr8:121821125-121828511	HepG2	liver:	n/a	n/a
26	FOXA1	chr8:121827366-121827613	ECC-1	luminal epithelium:	n/a	n/a
27	JUND	chr8:121827387-121827829	HepG2	liver:	n/a	n/a
28	MAX	chr8:121827300-121827926	HepG2	liver:	n/a	n/a
29	TBP	chr8:121827434-121827860	HepG2	liver:	n/a	n/a
30	EP300	chr8:121827373-121827743	ECC-1	luminal epithelium:	n/a	n/a
31	TCF12	chr8:121827232-121827898	SK-N-SH	brain:	n/a	n/a
32	EP300	chr8:121827363-121827841	HepG2	liver:	n/a	n/a
33	TEAD4	chr8:121827288-121827810	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr8:121827329-121828215	HepG2	liver:	n/a	n/a
35	JUND	chr8:121827431-121827809	HepG2	liver:	n/a	n/a
36	TCF12	chr8:121827294-121827763	ECC-1	luminal epithelium:	n/a	n/a
37	HDAC2	chr8:121827409-121827755	HepG2	liver:	n/a	n/a
38	POLR2A	chr8:121827216-121827868	HepG2	liver:	n/a	n/a
39	ARID3A	chr8:121827353-121827894	HepG2	liver:	n/a	n/a
40	NR3C1	chr8:121827404-121827743	ECC-1	luminal epithelium:	n/a	n/a
41	TCF12	chr8:121827170-121827957	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr8:121827176-121827755	HepG2	liver:	n/a	n/a
43	MYBL2	chr8:121827319-121827921	HepG2	liver:	n/a	n/a
44	EP300	chr8:121827422-121827862	HepG2	liver:	n/a	n/a
45	ESR1	chr8:121827377-121827711	ECC-1	luminal epithelium:	n/a	n/a
46	MYBL2	chr8:121827306-121827982	HepG2	liver:	n/a	n/a
47	NFIC	chr8:121827299-121827808	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121822883..121826254-chr8:121826356..121829180,4	MCF-7	breast:

No data

Variant related genes	Relation type
SNTB1	TF binding region
ENSG00000172164	Chromatin interaction
ENSG00000272502	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12681269	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13282943	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28475065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35519186	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56280815	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv1016172	chr8:121679590-121929916	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2757289	chr8:121765701-121828919	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759640	chr8:121765701-121828919	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121825200-121828600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:121825600-121831400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr8:121826400-121829000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr8:121826600-121828000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr8:121826600-121828000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr8:121826600-121828200	Enhancers	HSMM	muscle
7	chr8:121826600-121828400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:121827000-121828400	Enhancers	NHDF-Ad	bronchial
9	chr8:121827200-121828000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:121827200-121828000	Enhancers	Osteobl	bone
11	chr8:121827200-121828200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr8:121827200-121828200	Enhancers	NHLF	lung
13	chr8:121827200-121828400	Enhancers	HSMMtube	muscle
14	chr8:121827400-121827600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:121827400-121827800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:121827400-121827800	Enhancers	Psoas Muscle	Psoas
17	chr8:121827400-121827800	Flanking Active TSS	HepG2	liver
18	chr8:121827400-121828000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:121827400-121828000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:121827400-121828000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:121827400-121828000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:121827400-121828000	Enhancers	Fetal Muscle Leg	muscle
23	chr8:121827400-121828000	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links