Variant report

Variant	rs17708949
Chromosome Location	chr6:28001003-28001004
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	POLR2A	chr6:28000868-28001125	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr6:28000166-28002054	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:27780572..27782800-chr6:28000600..28002491,2	K562	blood:

Variant related genes	Relation type
OR2W2P	TF binding region
ENSG00000182611	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10484402	1.00[EUR][1000 genomes]
rs1529749	0.84[ASN][1000 genomes]
rs1565334	0.93[EUR][1000 genomes]
rs16868156	0.93[EUR][1000 genomes]
rs17709097	0.86[ASN][1000 genomes]
rs17709109	0.84[ASN][1000 genomes]
rs17765491	0.86[ASN][1000 genomes]
rs2030008	0.84[ASN][1000 genomes]
rs2030009	0.84[ASN][1000 genomes]
rs2130355	0.93[EUR][1000 genomes]
rs2130356	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3800321	0.84[EUR][1000 genomes]
rs9295751	0.84[EUR][1000 genomes]
rs9348780	0.84[EUR][1000 genomes]
rs9357053	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9357054	1.00[EUR][1000 genomes]
rs9357055	0.86[ASN][1000 genomes]
rs9357056	0.84[ASN][1000 genomes]
rs9357059	0.82[ASN][1000 genomes]
rs9368538	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9368545	0.84[ASN][1000 genomes]
rs9380022	0.81[EUR][1000 genomes]
rs9380024	0.81[EUR][1000 genomes]
rs9380034	0.84[ASN][1000 genomes]
rs9380038	0.82[ASN][1000 genomes]
rs9393864	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9393865	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9393873	0.81[ASN][1000 genomes]
rs9393874	0.84[ASN][1000 genomes]
rs9393878	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432858	chr6:27719375-28011652	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	387 gene(s)	inside rSNPs	diseases
2	nsv1022651	chr6:27864217-28017997	Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv830619	chr6:27872302-28062544	Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv883513	chr6:27982152-28033087	Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv1817841	chr6:27984907-28007435	Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv981052	chr6:27987196-28024382	Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

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

No data

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