Variant report

Variant	rs4757388
Chromosome Location	chr11:16274295-16274296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:16274180-16274330	AoAF	blood vessel:	n/a	n/a
2	CTCF	chr11:16274200-16274350	GM12874	blood:	n/a	n/a
3	CTCF	chr11:16274160-16274310	A549	lung:	n/a	n/a
4	SMC3	chr11:16273745-16274352	HepG2	liver:	n/a	n/a
5	CTCF	chr11:16274240-16274390	HAc	cerebellar:	n/a	n/a
6	CTCF	chr11:16273891-16274322	MCF-7	breast:	n/a	n/a
7	CTCF	chr11:16274160-16274310	HRE	kidney:	n/a	n/a
8	CTCF	chr11:16273975-16274311	IMR90	lung:	n/a	n/a
9	RAD21	chr11:16273952-16274399	HepG2	liver:	n/a	n/a
10	RAD21	chr11:16273873-16274309	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:16273968-16274297	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:16273658..16274622-chr11:16627404..16628365,5	MCF-7	breast:

No data

Variant related genes	Relation type
SOX6	TF binding region
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10219384	0.90[ASN][1000 genomes]
rs10500829	0.90[ASN][1000 genomes]
rs10741694	0.86[EUR][1000 genomes]
rs10741696	0.90[ASN][1000 genomes]
rs10832577	0.97[ASN][1000 genomes]
rs10832580	0.97[ASN][1000 genomes]
rs10832587	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10832591	0.88[ASN][1000 genomes]
rs10832592	0.88[ASN][1000 genomes]
rs10832593	0.88[ASN][1000 genomes]
rs10832594	0.87[ASN][1000 genomes]
rs11023894	0.97[ASN][1000 genomes]
rs11023898	0.97[ASN][1000 genomes]
rs11023904	0.90[ASN][1000 genomes]
rs11023913	0.82[ASN][1000 genomes]
rs11023917	0.88[ASN][1000 genomes]
rs12271339	0.88[ASN][1000 genomes]
rs12274377	0.92[ASN][1000 genomes]
rs1607480	0.97[ASN][1000 genomes]
rs190929	0.88[ASN][1000 genomes]
rs1949481	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2351964	0.88[ASN][1000 genomes]
rs2917899	0.90[ASN][1000 genomes]
rs297342	0.88[ASN][1000 genomes]
rs297344	0.88[ASN][1000 genomes]
rs297359	0.88[ASN][1000 genomes]
rs297365	0.90[ASN][1000 genomes]
rs297366	0.90[ASN][1000 genomes]
rs4757390	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757392	0.87[ASN][1000 genomes]
rs7109206	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs722746	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv897012	chr11:16189326-16283644	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv897013	chr11:16206658-16307700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv897014	chr11:16211343-16283644	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv553565	chr11:16220289-16307700	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv897015	chr11:16235962-16307700	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3414577	chr11:16270425-16298158	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16270600-16283600	Weak transcription	Fetal Intestine Small	intestine
2	chr11:16271400-16289200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:16271800-16286400	Weak transcription	Psoas Muscle	Psoas
4	chr11:16273800-16274400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr11:16273800-16274400	Enhancers	Right Atrium	heart
6	chr11:16274200-16274400	Enhancers	Pancreas	Pancrea

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