Variant report

Variant	rs73468311
Chromosome Location	chr11:45864559-45864560
allele	A/C
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	CTCF	chr11:45864503-45864603	GM10266	blood:	n/a	n/a
2	MAX	chr11:45864525-45865105	MCF-7	breast:	n/a	n/a
3	SIN3AK20	chr11:45864473-45865335	MCF-7	breast:	n/a	n/a
4	RAD21	chr11:45864531-45865174	MCF-7	breast:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
5	CTCF	chr11:45864480-45864630	HMEC	breast:	n/a	n/a
6	NRF1	chr11:45864456-45864618	HepG2	liver:	n/a	n/a
7	RUNX3	chr11:45864543-45865075	GM12878	blood:	n/a	chr11:45864814-45864829
8	CBX3	chr11:45864544-45865123	K562	blood:	n/a	n/a
9	SP1	chr11:45864524-45865166	A549	lung:	n/a	chr11:45864805-45864816 chr11:45864807-45864816
10	RAD21	chr11:45864502-45865360	SK-N-SH	brain:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
11	KAP1	chr11:45864238-45864749	K562	blood:	n/a	n/a
12	CTCF	chr11:45864515-45865111	HCT-116	colon:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
13	CTCF	chr11:45864158-45865368	A549	lung:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
14	BRCA1	chr11:45864486-45865243	Hela-S3	cervix:	n/a	n/a
15	RAD21	chr11:45864514-45865179	A549	lung:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856
16	CTCF	chr11:45864554-45865109	K562	blood:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
17	CTCF	chr11:45864410-45865293	SK-N-SH	brain:	n/a	chr11:45864851-45864859 chr11:45864849-45864862 chr11:45864848-45864869 chr11:45864846-45864864 chr11:45864849-45864862 chr11:45864847-45864863
18	SMC3	chr11:45864535-45865421	SK-N-SH	brain:	n/a	chr11:45864848-45864862
19	RCOR1	chr11:45864513-45865093	Hela-S3	cervix:	n/a	n/a
20	BCL3	chr11:45864542-45865230	A549	lung:	n/a	chr11:45864894-45864903
21	RAD21	chr11:45864520-45865192	HCT-116	colon:	n/a	chr11:45864851-45864860 chr11:45864847-45864866 chr11:45864849-45864856

No.	Distal block	Cell Line	Cell type
1	chr11:45864486..45866793-chr11:45867171..45870088,4	K562	blood:
2	chr11:45850331..45852679-chr11:45862063..45864793,2	K562	blood:
3	chr11:45823557..45830738-chr11:45863397..45877001,19	MCF-7	breast:
4	chr11:45864388..45864916-chr11:46027549..46028549,2	K562	blood:
5	chr11:45843823..45844729-chr11:45864385..45864925,2	MCF-7	breast:
6	chr11:45863464..45866206-chr11:45876321..45877929,2	K562	blood:
7	chr11:45825112..45826973-chr11:45863249..45865849,2	MCF-7	breast:
8	chr11:45863403..45866148-chr11:46264573..46266399,2	MCF-7	breast:
9	chr11:45843885..45845928-chr11:45863860..45866238,2	MCF-7	breast:
10	chr11:45792957..45793715-chr11:45864355..45864856,2	K562	blood:
11	chr11:45863033..45864634-chr11:45867875..45871830,3	MCF-7	breast:
12	chr11:45850331..45852679-chr11:45862063..45866263,3	K562	blood:

Variant related genes	Relation type
CRY2	TF binding region
ENSG00000121671	Chromatin interaction
ENSG00000205106	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10838518	0.82[AMR][1000 genomes]
rs10838523	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12281069	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12281674	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12284956	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2037311	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756038	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73466394	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73468335	0.89[AFR][1000 genomes]
rs9300053	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45845800-45869000	Weak transcription	Right Atrium	heart
2	chr11:45856200-45868600	Weak transcription	Left Ventricle	heart
3	chr11:45856800-45864600	Weak transcription	K562	blood
4	chr11:45863400-45865200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:45863800-45865000	Enhancers	Liver	Liver
6	chr11:45864000-45865000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr11:45864400-45864600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr11:45864400-45864600	Enhancers	Dnd41	blood
9	chr11:45864400-45864800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr11:45864400-45865000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr11:45864400-45865000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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