Variant report

Variant	rs1997477
Chromosome Location	chr4:85073083-85073084
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:4)
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	RAD21	chr4:85072694-85073139	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr4:85072649-85073157	MCF-7	breast:	n/a	n/a
3	RAD21	chr4:85072715-85073181	HCT-116	colon:	n/a	n/a
4	CTCF	chr4:85072679-85073170	MCF-7	breast:	n/a	n/a
5	CTCF	chr4:85072940-85073090	A549	lung:	n/a	n/a
6	CTCF	chr4:85072789-85073087	K562	blood:	n/a	n/a
7	RAD21	chr4:85072614-85073202	MCF-7	breast:	n/a	n/a
8	SMC3	chr4:85072848-85073098	Hela-S3	cervix:	n/a	n/a
9	SMC3	chr4:85072778-85073106	GM12878	blood:	n/a	n/a
10	CTCF	chr4:85072751-85073142	MCF-7	breast:	n/a	n/a
11	CTCF	chr4:85072563-85073158	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:85072631..85073368-chr4:85450368..85450912,2	MCF-7	breast:
2	chr4:85071031..85073190-chr4:85079864..85082804,2	MCF-7	breast:
3	chr4:85072451..85073423-chr4:85180134..85180901,4	MCF-7	breast:
4	chr4:85072431..85073209-chr4:85424476..85425190,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250546	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10017709	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10022978	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10025498	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10033438	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10516714	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10857224	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11933688	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13118466	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13143306	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1344305	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17008055	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17008130	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17008193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1882386	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882387	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882390	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1882394	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1921857	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1921859	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1921860	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1921862	0.86[EUR][1000 genomes]
rs1921863	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1921866	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1950126	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1950127	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1950128	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1997478	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103383	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2141805	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2178601	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2178604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28481766	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28484825	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2868870	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28698172	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2903945	0.90[EUR][1000 genomes]
rs34441355	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4693107	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4693108	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4693672	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4693674	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4693675	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56715771	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6535519	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6535520	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6815073	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6846444	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6856117	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6856193	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7661961	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7669457	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7680539	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7683351	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7684582	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7684739	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7684962	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7695490	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9992012	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9994508	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9994528	0.88[AMR][1000 genomes];0.93[EUR][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	nsv879512	chr4:84374692-85090749	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv916422	chr4:84965304-85145657	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv524354	chr4:85006975-85215142	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv829996	chr4:85016673-85173300	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv508294	chr4:85035979-85073816	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv879514	chr4:85057124-85272572	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1012379	chr4:85071268-85205732	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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