Variant report

Variant	rs2188988
Chromosome Location	chr7:84175009-84175010
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	SPI1	chr7:84174835-84175346	HL-60	blood:	n/a	n/a
2	SPI1	chr7:84174936-84175309	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149857245..149858849-chr7:84173495..84175226,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235139	TF binding region
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs1014907	0.96[EUR][1000 genomes]
rs10225378	0.83[EUR][1000 genomes]
rs10252291	0.94[EUR][1000 genomes]
rs10252535	0.94[EUR][1000 genomes]
rs10252781	0.83[EUR][1000 genomes]
rs10263739	0.92[EUR][1000 genomes]
rs10265431	0.85[EUR][1000 genomes]
rs10278903	0.94[EUR][1000 genomes]
rs10808307	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954757	0.91[EUR][1000 genomes]
rs10954758	0.85[EUR][1000 genomes]
rs11496186	0.94[EUR][1000 genomes]
rs11761298	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11765801	0.85[EUR][1000 genomes]
rs11974811	0.92[EUR][1000 genomes]
rs11976978	0.85[EUR][1000 genomes]
rs11980222	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12154659	0.86[EUR][1000 genomes]
rs12668064	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12669783	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12670015	0.86[ASN][1000 genomes]
rs12674098	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12707656	0.92[EUR][1000 genomes]
rs12707657	0.96[EUR][1000 genomes]
rs13222404	0.94[EUR][1000 genomes]
rs13225152	0.88[ASN][1000 genomes]
rs13225742	0.92[EUR][1000 genomes]
rs13236772	0.85[EUR][1000 genomes]
rs13240278	0.92[EUR][1000 genomes]
rs13247631	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1541356	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1981528	0.96[EUR][1000 genomes]
rs2051888	0.87[EUR][1000 genomes]
rs2188987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190050	0.83[ASN][1000 genomes]
rs2214748	0.83[ASN][1000 genomes]
rs2372172	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2372175	0.94[EUR][1000 genomes]
rs2372399	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372400	0.96[EUR][1000 genomes]
rs28672750	0.86[EUR][1000 genomes]
rs4130913	0.96[EUR][1000 genomes]
rs4132667	0.94[EUR][1000 genomes]
rs4275166	0.94[EUR][1000 genomes]
rs4291215	0.92[EUR][1000 genomes]
rs4344031	0.82[EUR][1000 genomes]
rs4385399	0.86[EUR][1000 genomes]
rs4397345	0.92[EUR][1000 genomes]
rs4416778	0.85[EUR][1000 genomes]
rs4422706	0.92[EUR][1000 genomes]
rs4433073	0.91[EUR][1000 genomes]
rs4434564	0.88[EUR][1000 genomes]
rs4480042	0.84[EUR][1000 genomes]
rs4559166	0.92[EUR][1000 genomes]
rs4644185	0.86[EUR][1000 genomes]
rs4732558	0.87[EUR][1000 genomes]
rs4732570	0.94[EUR][1000 genomes]
rs4732571	0.93[EUR][1000 genomes]
rs4732573	0.84[EUR][1000 genomes]
rs4732576	0.85[EUR][1000 genomes]
rs62473016	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952175	0.84[EUR][1000 genomes]
rs6976570	0.84[EUR][1000 genomes]
rs7777832	0.92[EUR][1000 genomes]
rs7780912	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7784312	0.92[EUR][1000 genomes]
rs7785116	0.94[EUR][1000 genomes]
rs7786412	0.92[EUR][1000 genomes]
rs7795440	0.86[EUR][1000 genomes]
rs7797033	0.86[EUR][1000 genomes]
rs7807002	0.85[EUR][1000 genomes]
rs882625	0.94[EUR][1000 genomes]
rs9640951	0.94[EUR][1000 genomes]
rs9642186	0.94[EUR][1000 genomes]
rs9642187	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv888634	chr7:84086502-84196258	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv888635	chr7:84086502-84344258	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888636	chr7:84117594-84334498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv888637	chr7:84137622-84213008	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv464620	chr7:84141077-84289915	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv607711	chr7:84141077-84289915	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1031149	chr7:84144990-84404356	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv888638	chr7:84158180-84334498	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv888639	chr7:84158180-84344258	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv5821	chr7:84159713-84204468	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1019542	chr7:84162664-84200815	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv888640	chr7:84168615-84334498	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv888641	chr7:84168615-84453100	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
16	nsv1017124	chr7:84171466-84318984	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links