Variant report

Variant	rs11873226
Chromosome Location	chr18:28683536-28683537
allele	A/G
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	POLR2A	chr18:28683155-28683692	HepG2	liver:	n/a	n/a
2	KAP1	chr18:28682213-28683824	U2OS	brain:	n/a	chr18:28683499-28683508 chr18:28683113-28683122
3	JUND	chr18:28682867-28683883	HCT-116	colon:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
4	STAT3	chr18:28683407-28683757	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr18:28682913-28683739	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
6	JUND	chr18:28683073-28683766	HepG2	liver:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
7	SETDB1	chr18:28683382-28683890	U2OS	brain:	n/a	n/a
8	FOS	chr18:28682861-28683673	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
9	FOSL1	chr18:28682785-28683853	HCT-116	colon:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
10	MAFK	chr18:28683417-28683630	HepG2	liver:	n/a	chr18:28683496-28683506 chr18:28683499-28683508
11	POLR2A	chr18:28680002-28683936	K562	blood:	n/a	n/a
12	KAP1	chr18:28681981-28683808	HEK293	kidney:	n/a	chr18:28683499-28683508 chr18:28683113-28683122
13	FOS	chr18:28682733-28683723	MCF10A-Er-Src	breast:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
14	POLR2A	chr18:28683493-28683795	MCF10A-Er-Src	breast:	n/a	n/a
15	MAFK	chr18:28683038-28683613	K562	blood:	n/a	chr18:28683496-28683506 chr18:28683499-28683508
16	STAT3	chr18:28683473-28683956	MCF10A-Er-Src	breast:	n/a	chr18:28683780-28683789 chr18:28683781-28683790
17	ATF1	chr18:28683257-28683748	K562	blood:	n/a	n/a
18	JUN	chr18:28683437-28683728	HepG2	liver:	n/a	chr18:28683604-28683617 chr18:28683498-28683506 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28683605-28683614
19	CUX1	chr18:28683003-28683669	K562	blood:	n/a	n/a
20	JUND	chr18:28680543-28683681	K562	blood:	n/a	chr18:28683112-28683120 chr18:28683113-28683124 chr18:28683498-28683506 chr18:28683110-28683122 chr18:28683498-28683506 chr18:28683497-28683507 chr18:28683499-28683506 chr18:28683494-28683505 chr18:28681049-28681058 chr18:28683605-28683614
21	MAFF	chr18:28682803-28683643	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:28652105..28654902-chr18:28682018..28683959,2	K562	blood:
2	chr18:28682670..28684930-chr18:28689763..28691596,2	K562	blood:
3	chr18:28683460..28685615-chr18:28686180..28687685,2	MCF-7	breast:
4	chr18:28682778..28684607-chr18:28773976..28775884,2	MCF-7	breast:

Variant related genes	Relation type
DSC2	TF binding region
ENSG00000238376	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11877153	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11878075	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16961260	0.84[AFR][1000 genomes]
rs16961263	0.86[AFR][1000 genomes]
rs16961322	0.86[YRI][hapmap];0.93[AFR][1000 genomes]
rs16961338	0.86[YRI][hapmap];0.89[AFR][1000 genomes]
rs16961339	0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs16961347	0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs6506882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8089277	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8095354	0.86[YRI][hapmap];0.93[AFR][1000 genomes]
rs989307	0.87[YRI][hapmap];0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388313	chr18:28583296-28693160	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530788	chr18:28596461-28751891	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28682400-28683600	Flanking Active TSS	NHEK	skin
2	chr18:28682600-28683800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:28682600-28684600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr18:28682600-28685400	Weak transcription	Esophagus	oesophagus
5	chr18:28682800-28683600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr18:28682800-28683600	Enhancers	K562	blood
7	chr18:28682800-28684000	Enhancers	HMEC	breast
8	chr18:28682800-28687200	Weak transcription	Stomach Mucosa	stomach
9	chr18:28683000-28683800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr18:28683200-28683600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr18:28683200-28683600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr18:28683200-28683800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr18:28683200-28683800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr18:28683200-28683800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr18:28683200-28683800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr18:28683200-28685000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr18:28683200-28688400	Weak transcription	Fetal Intestine Small	intestine
18	chr18:28683400-28683600	Bivalent/Poised TSS	Fetal Lung	lung
19	chr18:28683400-28683800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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