Variant report

Variant	rs2845766
Chromosome Location	chr21:37853912-37853913
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	TCF12	chr21:37853896-37854324	HepG2	liver:	n/a	n/a
2	EP300	chr21:37853793-37854331	HepG2	liver:	n/a	n/a
3	MYBL2	chr21:37853828-37854429	HepG2	liver:	n/a	n/a
4	NR2F2	chr21:37853881-37854346	MCF-7	breast:	n/a	n/a
5	HNF4A	chr21:37853887-37854348	HepG2	liver:	n/a	chr21:37854020-37854034 chr21:37854021-37854033 chr21:37854019-37854034 chr21:37854021-37854034 chr21:37854016-37854038
6	SP1	chr21:37853826-37854442	HepG2	liver:	n/a	chr21:37854032-37854045
7	FOXA1	chr21:37853771-37854337	HepG2	liver:	n/a	n/a
8	MYBL2	chr21:37853686-37854436	HepG2	liver:	n/a	n/a
9	TEAD4	chr21:37853842-37854372	HepG2	liver:	n/a	n/a
10	FOXA1	chr21:37853790-37854310	HepG2	liver:	n/a	n/a
11	NR2F2	chr21:37853743-37854518	HepG2	liver:	n/a	n/a
12	HNF4A	chr21:37853812-37854286	HepG2	liver:	n/a	chr21:37854020-37854034 chr21:37854021-37854033 chr21:37854019-37854034 chr21:37854021-37854034 chr21:37854016-37854038
13	FOXA1	chr21:37853852-37854308	HepG2	liver:	n/a	n/a
14	EP300	chr21:37853782-37854466	HepG2	liver:	n/a	chr21:37854402-37854411 chr21:37854403-37854412
15	MAX	chr21:37853832-37854440	HepG2	liver:	n/a	chr21:37854402-37854411
16	FOXA1	chr21:37853872-37854380	HepG2	liver:	n/a	n/a
17	NFIC	chr21:37853831-37854367	HepG2	liver:	n/a	n/a
18	MBD4	chr21:37853784-37854307	HepG2	liver:	n/a	n/a
19	CEBPB	chr21:37853895-37854275	HepG2	liver:	n/a	n/a
20	HNF4G	chr21:37853856-37854350	HepG2	liver:	n/a	chr21:37854075-37854090 chr21:37854020-37854034 chr21:37854021-37854033 chr21:37854021-37854034 chr21:37854016-37854038
21	JUND	chr21:37853912-37854426	HepG2	liver:	n/a	chr21:37854403-37854412 chr21:37854402-37854411 chr21:37854403-37854410 chr21:37854403-37854411
22	HNF4G	chr21:37853836-37854351	HepG2	liver:	n/a	chr21:37854075-37854090 chr21:37854020-37854034 chr21:37854021-37854033 chr21:37854021-37854034 chr21:37854016-37854038
23	FOSL2	chr21:37853847-37854353	HepG2	liver:	n/a	n/a
24	NFIC	chr21:37853814-37854436	HepG2	liver:	n/a	n/a
25	ARID3A	chr21:37853767-37854327	HepG2	liver:	n/a	n/a
26	FOXA2	chr21:37853897-37854290	HepG2	liver:	n/a	n/a
27	HNF4A	chr21:37853882-37854302	HepG2	liver:	n/a	chr21:37854020-37854034 chr21:37854021-37854033 chr21:37854019-37854034 chr21:37854021-37854034 chr21:37854016-37854038
28	NR2F2	chr21:37853708-37854437	HepG2	liver:	n/a	n/a
29	MXI1	chr21:37853881-37854286	HepG2	liver:	n/a	n/a
30	CEBPB	chr21:37853876-37854291	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:37852311..37854475-chr21:37858669..37861019,2	MCF-7	breast:
2	chr21:37800672..37803680-chr21:37853441..37857868,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267976	TF binding region
CLDN14	TF binding region
ENSG00000230479	Chromatin interaction
ENSG00000223741	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13047783	0.87[ASN][1000 genomes]
rs170182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs219759	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs219765	0.90[ASN][1000 genomes]
rs2249115	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2633334	0.98[ASN][1000 genomes]
rs2845764	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2845769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs2850102	0.93[ASN][1000 genomes]
rs2850108	0.97[ASN][1000 genomes]
rs2850110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35599107	0.88[ASN][1000 genomes]
rs35857368	0.90[ASN][1000 genomes]
rs55666618	0.88[ASN][1000 genomes]
rs59059205	0.91[ASN][1000 genomes]
rs59285877	0.91[ASN][1000 genomes]
rs59724458	0.91[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	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	9 gene(s)	inside rSNPs	diseases
2	esv33286	chr21:37827016-37861556	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv587470	chr21:37834641-37872447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37850800-37854600	Enhancers	Fetal Lung	lung
2	chr21:37851400-37860000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:37852000-37871000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:37852200-37860000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr21:37852400-37859800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr21:37852400-37864800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr21:37852600-37860000	Weak transcription	Stomach Mucosa	stomach
8	chr21:37852800-37854000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr21:37852800-37854200	Strong transcription	HUVEC	blood vessel
10	chr21:37852800-37856400	Weak transcription	HSMM	muscle
11	chr21:37852800-37857600	Weak transcription	Right Atrium	heart
12	chr21:37853200-37856600	Enhancers	HepG2	liver
13	chr21:37853200-37863600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:37853600-37854000	Weak transcription	Pancreas	Pancrea
15	chr21:37853600-37854400	Enhancers	Ovary	ovary
16	chr21:37853800-37854200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:37853800-37854200	Active TSS	Liver	Liver

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