Variant report

Variant	rs1800481
Chromosome Location	chr2:21267210-21267211
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	RCOR1	chr2:21266629-21267470	HepG2	liver:	n/a	n/a
2	EP300	chr2:21265507-21267237	HepG2	liver:	n/a	chr2:21266050-21266064 chr2:21266953-21266962 chr2:21266948-21266957 chr2:21267040-21267050 chr2:21266820-21266836
3	TAF1	chr2:21266444-21267287	HepG2	liver:	n/a	n/a
4	HNF4G	chr2:21266585-21267349	HepG2	liver:	n/a	chr2:21267010-21267024 chr2:21267008-21267026 chr2:21267009-21267017 chr2:21267010-21267024 chr2:21267039-21267047
5	EP300	chr2:21265537-21267364	HepG2	liver:	n/a	chr2:21266050-21266064 chr2:21266953-21266962 chr2:21266948-21266957 chr2:21267040-21267050 chr2:21266820-21266836
6	POLR2A	chr2:21255088-21267268	HepG2	liver:	n/a	n/a
7	NFIC	chr2:21261394-21267333	HepG2	liver:	n/a	n/a
8	TBP	chr2:21266722-21267225	HepG2	liver:	n/a	n/a
9	FOXA1	chr2:21266641-21267315	HepG2	liver:	n/a	n/a
10	HEY1	chr2:21255048-21267280	HepG2	liver:	n/a	chr2:21266946-21266961
11	CTBP2	chr2:21265650-21267231	H1-hESC	embryonic stem cell:	n/a	n/a
12	MBD4	chr2:21252177-21267257	HepG2	liver:	n/a	n/a
13	FOSL2	chr2:21266674-21267273	HepG2	liver:	n/a	n/a
14	HNF4A	chr2:21265758-21267574	HepG2	liver:	n/a	chr2:21267010-21267024 chr2:21267008-21267026 chr2:21267009-21267017 chr2:21267010-21267024 chr2:21267383-21267398 chr2:21267039-21267047 chr2:21267009-21267024 chr2:21267383-21267398
15	HEY1	chr2:21247090-21267464	HepG2	liver:	n/a	chr2:21266946-21266961
16	RAD21	chr2:21266769-21267336	HepG2	liver:	n/a	chr2:21267114-21267127 chr2:21267117-21267131
17	ELF1	chr2:21266624-21267315	HepG2	liver:	n/a	n/a
18	RAD21	chr2:21266521-21267285	HepG2	liver:	n/a	chr2:21266583-21266597 chr2:21266585-21266598 chr2:21266582-21266601 chr2:21267114-21267127 chr2:21267117-21267131
19	MAZ	chr2:21266748-21267277	HepG2	liver:	n/a	n/a
20	POLR2A	chr2:21265808-21267257	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:21266716-21267223	HepG2	liver:	n/a	n/a
22	MAX	chr2:21265597-21267317	HepG2	liver:	n/a	chr2:21266697-21266707
23	BHLHE40	chr2:21265710-21267533	HepG2	liver:	n/a	chr2:21266821-21266837
24	YY1	chr2:21265720-21267351	HepG2	liver:	n/a	chr2:21266951-21266965 chr2:21266156-21266167 chr2:21266948-21266962 chr2:21266876-21266890 chr2:21265906-21265914 chr2:21266584-21266598 chr2:21266159-21266168
25	REST	chr2:21265721-21267317	HepG2	liver:	n/a	chr2:21267202-21267215 chr2:21267199-21267212 chr2:21266711-21266724
26	NFIC	chr2:21266722-21267335	HepG2	liver:	n/a	n/a
27	MYBL2	chr2:21255773-21267367	HepG2	liver:	n/a	n/a
28	RAD21	chr2:21266562-21267355	HepG2	liver:	n/a	chr2:21266583-21266597 chr2:21266585-21266598 chr2:21266582-21266601 chr2:21267114-21267127 chr2:21267117-21267131
29	HDAC2	chr2:21266637-21267365	HepG2	liver:	n/a	chr2:21267040-21267049
30	SMC3	chr2:21266855-21267341	HepG2	liver:	n/a	chr2:21267117-21267131 chr2:21267117-21267124
31	FOXA2	chr2:21266697-21267214	HepG2	liver:	n/a	n/a
32	FOXA2	chr2:21264778-21267549	HepG2	liver:	n/a	n/a
33	ZBTB7A	chr2:21266747-21267274	HepG2	liver:	n/a	n/a
34	CEBPB	chr2:21265614-21267286	HepG2	liver:	n/a	n/a
35	POLR2A	chr2:21255038-21267364	HepG2	liver:	n/a	n/a
36	CEBPD	chr2:21265797-21267510	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:21255039-21267355	HepG2	liver:	n/a	n/a
38	ZBTB7A	chr2:21266753-21267313	HepG2	liver:	n/a	n/a
39	MXI1	chr2:21265642-21267287	HepG2	liver:	n/a	n/a
40	FOXA1	chr2:21266648-21267335	HepG2	liver:	n/a	n/a
41	MYBL2	chr2:21255028-21268201	HepG2	liver:	n/a	n/a
42	RFX5	chr2:21266787-21267249	HepG2	liver:	n/a	n/a
43	EP300	chr2:21266647-21267294	HepG2	liver:	n/a	chr2:21266953-21266962 chr2:21266948-21266957 chr2:21267040-21267050 chr2:21266820-21266836
44	TEAD4	chr2:21252949-21267304	HepG2	liver:	n/a	n/a
45	MBD4	chr2:21266651-21267326	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:21250300-21267250	HepG2	liver:	n/a	n/a
47	HNF4G	chr2:21266575-21267550	HepG2	liver:	n/a	chr2:21267010-21267024 chr2:21267008-21267026 chr2:21267009-21267017 chr2:21267010-21267024 chr2:21267383-21267398 chr2:21267039-21267047 chr2:21267383-21267398
48	RXRA	chr2:21266799-21267211	HepG2	liver:	n/a	n/a
49	SP1	chr2:21266650-21267369	HepG2	liver:	n/a	chr2:21267085-21267094 chr2:21267124-21267133
50	TAF1	chr2:21266507-21267244	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:21267175-21267225	HAEpiC	amniotic membrane:	n/a
2	chr2:21267175-21267225	GM12892	blood:	n/a
3	chr2:21267175-21267225	NH-A	brain:	n/a
4	chr2:21267175-21267225	BJ	skin:	n/a
5	chr2:21267175-21267225	HPAEpiC	pulmonary alveolar:	n/a
6	chr2:21267175-21267225	HUVEC	blood vessel:	n/a
7	chr2:21267175-21267225	HCM	heart:	n/a
8	chr2:21267175-21267225	Hepatocyte	liver:	n/a
9	chr2:21267175-21267225	HRE	kidney:	n/a
10	chr2:21267175-21267225	PrEC	prostate:	n/a
11	chr2:21267175-21267225	GM06990	blood:	n/a
12	chr2:21267175-21267225	GM19239	blood:	n/a
13	chr2:21267175-21267225	GM12891	blood:	n/a
14	chr2:21267175-21267225	ECC-1	luminal epithelium:	n/a
15	chr2:21267175-21267225	A549	lung:	n/a
16	chr2:21267175-21267225	RPTEC	kidney:	n/a
17	chr2:21267175-21267225	LNCaP	prostate:	n/a
18	chr2:21267175-21267225	AG09309	skin:	n/a
19	chr2:21267175-21267225	T-47D	breast:	n/a
20	chr2:21267175-21267225	MCF10A-Er-Src	breast:	n/a
21	chr2:21267175-21267225	ovcar-3	ovarian:	n/a
22	chr2:21267175-21267225	HCPEpiC	choroid plexus:	n/a
23	chr2:21267175-21267225	HepG2	liver:	n/a
24	chr2:21267175-21267225	HNPCEpiC	eye:	n/a
25	chr2:21267175-21267225	HEEpiC	esophagus:	n/a
26	chr2:21267175-21267225	NHBE	bronchial:	n/a
27	chr2:21267175-21267225	HEK293	kidney:	embryo
28	chr2:21267175-21267225	IMR90	lung:	fetal
29	chr2:21267175-21267225	Hela-S3	cervix:	n/a
30	chr2:21267175-21267225	NB4	blood:	n/a
31	chr2:21267175-21267225	HL-60	blood:	n/a
32	chr2:21267175-21267225	NHDF-neo	bronchial:	n/a
33	chr2:21267175-21267225	CMK	blood:	n/a
34	chr2:21267175-21267225	Jurkat	blood:	n/a
35	chr2:21267175-21267225	Caco-2	colon:	n/a
36	chr2:21267175-21267225	SKMC	muscle:	n/a
37	chr2:21267175-21267225	PANC-1	pancreas:	n/a
38	chr2:21267175-21267225	AoSMC	blood vessel:	n/a
39	chr2:21267175-21267225	HCT-116	colon:	n/a
40	chr2:21267175-21267225	HMEC	breast:	n/a
41	chr2:21267175-21267225	H1-hESC	embryonic stem cell:	embryo
42	chr2:21267175-21267225	AG10803	skin:	n/a
43	chr2:21267175-21267225	GM12878	blood:	n/a
44	chr2:21267175-21267225	HRCEpiC	kidney:	n/a
45	chr2:21267175-21267225	BE2_C	brain:	n/a
46	chr2:21267175-21267225	K562	blood:	n/a
47	chr2:21267175-21267225	AG04450	lung:	fetal
48	chr2:21267175-21267225	U87	brain:	n/a
49	chr2:21267175-21267225	PFSK-1	brain:	n/a
50	chr2:21267175-21267225	HCF	heart:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC010872.2.1-2	chr2:21267101-21267489	XLOC_001386

Variant related genes	Relation type
APOB	TF binding region
APOB	CpG island

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12714264	0.83[EUR][1000 genomes]
rs1713222	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35913552	0.86[AMR][1000 genomes]
rs481069	0.86[AMR][1000 genomes]
rs531819	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs585967	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21265200-21268400	Enhancers	Spleen	Spleen
2	chr2:21265800-21267600	Bivalent Enhancer	Fetal Stomach	stomach
3	chr2:21266000-21268400	Enhancers	Lung	lung
4	chr2:21266200-21267400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:21266200-21267400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:21266400-21267400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:21266400-21267800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
8	chr2:21266800-21267600	Weak transcription	Right Ventricle	heart
9	chr2:21266800-21270200	Weak transcription	Ovary	ovary
10	chr2:21267000-21267400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:21267000-21267400	Flanking Active TSS	Fetal Intestine Small	intestine
12	chr2:21267000-21267600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr2:21267000-21267600	Bivalent Enhancer	Placenta	Placenta
14	chr2:21267000-21267800	Weak transcription	Left Ventricle	heart
15	chr2:21267000-21268000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:21267000-21268400	Enhancers	Adipose Nuclei	Adipose
17	chr2:21267000-21270000	Weak transcription	Gastric	stomach
18	chr2:21267200-21267400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
19	chr2:21267200-21267400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
20	chr2:21267200-21267400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:21267200-21267400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr2:21267200-21267400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr2:21267200-21267400	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:21267200-21267400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:21267200-21267600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr2:21267200-21267600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
27	chr2:21267200-21267600	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr2:21267200-21268200	Flanking Active TSS	HepG2	liver
29	chr2:21267200-21268400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr2:21267200-21268400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:21267200-21268600	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links