Variant report

Variant	rs4818927
Chromosome Location	chr21:45902971-45902972
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr21:45902320-45904197	HepG2	liver:	n/a	n/a
2	EP300	chr21:45902380-45903042	HepG2	liver:	n/a	n/a
3	MBD4	chr21:45902695-45903101	HepG2	liver:	n/a	n/a
4	TEAD4	chr21:45902369-45903129	HepG2	liver:	n/a	n/a
5	HNF4G	chr21:45902465-45903015	HepG2	liver:	n/a	n/a
6	FOXA1	chr21:45902390-45902979	HepG2	liver:	n/a	n/a
7	YY1	chr21:45902733-45903179	HepG2	liver:	n/a	n/a
8	CREB1	chr21:45902389-45904220	HepG2	liver:	n/a	n/a
9	POLR2A	chr21:45902702-45903512	HepG2	liver:	n/a	n/a
10	POLR2A	chr21:45902243-45905465	HepG2	liver:	n/a	n/a
11	NFIC	chr21:45902400-45903377	HepG2	liver:	n/a	n/a
12	ELF1	chr21:45902601-45903037	HepG2	liver:	n/a	n/a
13	SP1	chr21:45902241-45903085	HepG2	liver:	n/a	n/a
14	TAF1	chr21:45902700-45903531	HepG2	liver:	n/a	n/a
15	MBD4	chr21:45902789-45903355	HepG2	liver:	n/a	n/a
16	RXRA	chr21:45902373-45903037	HepG2	liver:	n/a	n/a
17	CEBPD	chr21:45902608-45903110	HepG2	liver:	n/a	n/a
18	EP300	chr21:45902370-45903007	HepG2	liver:	n/a	n/a
19	SREBP1	chr21:45902640-45903062	HepG2	liver:	n/a	n/a
20	HEY1	chr21:45902335-45904728	HepG2	liver:	n/a	chr21:45903689-45903704
21	POLR2A	chr21:45902369-45904700	HepG2	liver:	n/a	n/a
22	TCF12	chr21:45902521-45903045	HepG2	liver:	n/a	n/a
23	MAFF	chr21:45902378-45903006	HepG2	liver:	n/a	n/a
24	SREBP1	chr21:45902583-45903007	HepG2	liver:	n/a	n/a
25	POLR2A	chr21:45902552-45904589	HepG2	liver:	n/a	n/a
26	MYBL2	chr21:45902343-45903235	HepG2	liver:	n/a	n/a
27	HEY1	chr21:45902378-45904643	HepG2	liver:	n/a	chr21:45903689-45903704
28	POLR2A	chr21:45902412-45904610	HepG2	liver:	n/a	n/a
29	TAF1	chr21:45902757-45903267	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr21:45902565-45903012	HepG2	liver:	n/a	n/a
31	FOXA1	chr21:45902399-45903007	HepG2	liver:	n/a	n/a
32	REST	chr21:45902447-45903108	HepG2	liver:	n/a	n/a
33	POLR2A	chr21:45902353-45904668	HepG2	liver:	n/a	n/a
34	FOXA1	chr21:45902392-45903025	HepG2	liver:	n/a	n/a
35	TBP	chr21:45902468-45903141	HepG2	liver:	n/a	n/a
36	BHLHE40	chr21:45902837-45903070	HepG2	liver:	n/a	n/a
37	FOSL2	chr21:45902577-45903053	HepG2	liver:	n/a	n/a
38	JUND	chr21:45902596-45902989	HepG2	liver:	n/a	n/a
39	MAX	chr21:45902648-45903058	HepG2	liver:	n/a	n/a
40	SP1	chr21:45902600-45902983	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYBL2	chr21:45902266-45903677	HepG2	liver:	n/a	n/a
42	EP300	chr21:45902324-45903078	HepG2	liver:	n/a	n/a
43	MXI1	chr21:45902378-45903088	HepG2	liver:	n/a	n/a
44	MYC	chr21:45902635-45903045	HepG2	liver:	n/a	n/a
45	POLR2A	chr21:45902437-45904084	HepG2	liver:	n/a	n/a
46	POLR2A	chr21:45902767-45903226	HepG2	liver:	n/a	n/a
47	POLR2A	chr21:45902518-45904057	HepG2	liver:	n/a	n/a
48	SIN3AK20	chr21:45902770-45903014	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45662446..45664337-chr21:45902333..45904974,2	MCF-7	breast:
2	chr21:45759118..45760920-chr21:45902719..45905047,2	MCF-7	breast:
3	chr21:45758851..45761192-chr21:45902340..45905536,3	K562	blood:
4	chr21:45902107..45904148-chr21:45905322..45907862,2	K562	blood:
5	chr21:45902648..45905236-chr21:45906362..45908752,2	K562	blood:
6	chr21:45900988..45903859-chr21:46349141..46351418,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf90-3	chr21:45902781-45903318	NONHSAT082600
2	lnc-C21orf90-3	chr21:45902880-45903318	NONHSAT082602

No data

Variant related genes	Relation type
ENSG00000228709	TF binding region
ENSG00000228709	Chromatin interaction
ENSG00000232969	Chromatin interaction
ENSG00000273027	Chromatin interaction
ENSG00000160226	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13048314	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13050591	0.87[ASN][1000 genomes]
rs2838572	0.99[EUR][1000 genomes]
rs2838573	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7276430	0.87[ASN][1000 genomes]
rs9306105	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv913948	chr21:45860912-46031810	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv834109	chr21:45869352-45916560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1056424	chr21:45894901-46031810	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv544475	chr21:45894901-46031810	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
20	nsv1055163	chr21:45895663-46031810	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45881800-45911800	Weak transcription	Right Atrium	heart
2	chr21:45896200-45905400	Weak transcription	Brain Germinal Matrix	brain
3	chr21:45898600-45905600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:45898800-45905400	Weak transcription	Fetal Brain Female	brain
5	chr21:45898800-45906200	Weak transcription	Spleen	Spleen
6	chr21:45899000-45903800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr21:45900800-45905000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr21:45901000-45916000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr21:45902000-45903000	Enhancers	Fetal Intestine Large	intestine
10	chr21:45902000-45903200	Enhancers	Placenta	Placenta
11	chr21:45902000-45903600	Enhancers	Stomach Mucosa	stomach
12	chr21:45902000-45904400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:45902400-45903000	Enhancers	Duodenum Mucosa	Duodenum
14	chr21:45902400-45903000	Enhancers	Pancreas	Pancrea
15	chr21:45902400-45903600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:45902400-45903600	Enhancers	Gastric	stomach
17	chr21:45902600-45903000	Active TSS	HepG2	liver
18	chr21:45902600-45904000	Active TSS	Liver	Liver
19	chr21:45902600-45905400	Weak transcription	Fetal Intestine Small	intestine
20	chr21:45902800-45903000	Enhancers	Fetal Thymus	thymus
21	chr21:45902800-45903400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr21:45902800-45903800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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