Variant report

Variant	rs35730296
Chromosome Location	chr11:45823243-45823244
allele	C/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	SIX5	chr11:45823186-45823554	K562	blood:	n/a	n/a
2	USF1	chr11:45823178-45823566	H1-hESC	embryonic stem cell:	n/a	chr11:45823396-45823407
3	USF1	chr11:45823155-45823673	HCT-116	colon:	n/a	chr11:45823396-45823407
4	USF1	chr11:45823188-45823610	K562	blood:	n/a	chr11:45823396-45823407
5	USF1	chr11:45823202-45823533	K562	blood:	n/a	chr11:45823396-45823407
6	SPI1	chr11:45823164-45823618	HL-60	blood:	n/a	n/a
7	SPI1	chr11:45823218-45823454	GM12891	blood:	n/a	n/a
8	USF1	chr11:45823131-45823630	H1-hESC	embryonic stem cell:	n/a	chr11:45823396-45823407
9	USF1	chr11:45823187-45823590	SK-N-SH	brain:	n/a	chr11:45823396-45823407
10	USF1	chr11:45823117-45823687	ECC-1	luminal epithelium:	n/a	chr11:45823396-45823407
11	USF1	chr11:45823234-45823555	A549	lung:	n/a	chr11:45823396-45823407
12	SPI1	chr11:45823235-45823474	K562	blood:	n/a	n/a
13	USF1	chr11:45823204-45823662	ECC-1	luminal epithelium:	n/a	chr11:45823396-45823407
14	ZNF143	chr11:45823241-45823609	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr11:45823240-45823560	H1-hESC	embryonic stem cell:	n/a	chr11:45823396-45823407
16	HCFC1	chr11:45823217-45823636	K562	blood:	n/a	n/a
17	ZNF143	chr11:45823232-45823620	K562	blood:	n/a	n/a
18	USF1	chr11:45823042-45823756	HCT-116	colon:	n/a	chr11:45823396-45823407
19	USF2	chr11:45823233-45823562	Hela-S3	cervix:	n/a	chr11:45823396-45823407
20	USF1	chr11:45823199-45823609	A549	lung:	n/a	chr11:45823396-45823407
21	SIX5	chr11:45823228-45823553	GM12878	blood:	n/a	n/a
22	USF1	chr11:45823234-45823498	SK-N-SH_RA	brain:	n/a	chr11:45823396-45823407
23	ZNF143	chr11:45823234-45823604	GM12878	blood:	n/a	n/a
24	MAX	chr11:45823221-45823566	NB4	blood:	n/a	chr11:45823396-45823406

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45822036..45824737-chr11:45867833..45869575,2	K562	blood:
2	chr11:45822001..45824348-chr11:45824437..45827874,4	K562	blood:

Variant related genes	Relation type
SLC35C1	TF binding region
ENSG00000181830	Chromatin interaction
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11038645	0.81[ASN][1000 genomes]
rs11038646	0.81[ASN][1000 genomes]
rs11038647	0.87[ASN][1000 genomes]
rs11038662	1.00[ASN][1000 genomes]
rs12286489	0.82[ASN][1000 genomes]
rs12291983	0.84[ASN][1000 genomes]
rs12295599	0.84[ASN][1000 genomes]
rs12790201	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12802077	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12805705	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12807177	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16938361	0.84[ASN][1000 genomes]
rs34462032	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34571612	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34764250	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35133667	0.84[ASN][1000 genomes]
rs35624205	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35795927	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35882101	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35997126	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3740704	0.82[ASN][1000 genomes]
rs3808976	0.94[ASN][1000 genomes]
rs4589265	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][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	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
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45816000-45825400	Weak transcription	Gastric	stomach
2	chr11:45818800-45825400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:45821200-45823400	Weak transcription	Placenta	Placenta
4	chr11:45821200-45826000	Weak transcription	K562	blood
5	chr11:45823000-45825400	Enhancers	Liver	Liver
6	chr11:45823000-45825400	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr11:45823200-45823400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:45823200-45823400	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr11:45823200-45823800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:45823200-45823800	Active TSS	Duodenum Mucosa	Duodenum
11	chr11:45823200-45824200	Enhancers	Small Intestine	intestine
12	chr11:45823200-45824400	Enhancers	Esophagus	oesophagus
13	chr11:45823200-45825400	Enhancers	Colonic Mucosa	Colon
14	chr11:45823200-45825400	Enhancers	Stomach Mucosa	stomach

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