Variant report

Variant	rs7574218
Chromosome Location	chr2:98851573-98851574
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	RAD21	chr2:98851325-98851602	HCT-116	colon:	n/a	n/a
2	CTCF	chr2:98851480-98851630	HCPEpiC	choroid plexus:	n/a	n/a

Variant related genes	Relation type
VWA3B	TF binding region

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10172087	0.96[ASN][1000 genomes]
rs10176056	0.82[ASN][1000 genomes]
rs10190336	0.96[ASN][1000 genomes]
rs10199476	0.96[ASN][1000 genomes]
rs10201994	0.82[ASN][1000 genomes]
rs10202618	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10203437	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11124096	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11124119	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11124121	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11889349	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891512	1.00[ASN][1000 genomes]
rs11895654	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11901562	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12470615	0.81[AFR][1000 genomes]
rs12478763	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12478769	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622324	0.96[ASN][1000 genomes]
rs12624294	0.82[ASN][1000 genomes]
rs12712256	0.89[ASN][1000 genomes]
rs12993718	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12993818	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13013876	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13033263	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13415414	0.82[ASN][1000 genomes]
rs1451251	0.96[ASN][1000 genomes]
rs1504679	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17427684	0.84[ASN][1000 genomes]
rs17428056	0.82[ASN][1000 genomes]
rs17493655	0.82[ASN][1000 genomes]
rs17493788	0.82[ASN][1000 genomes]
rs1875880	0.84[ASN][1000 genomes]
rs2122756	0.96[ASN][1000 genomes]
rs2202387	0.84[ASN][1000 genomes]
rs2221416	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3731659	0.80[ASN][1000 genomes]
rs4374424	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4389366	0.89[ASN][1000 genomes]
rs4455212	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4477970	1.00[ASN][1000 genomes]
rs4479470	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4494805	1.00[ASN][1000 genomes]
rs4535095	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4614979	0.80[ASN][1000 genomes]
rs4632400	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851122	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851123	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4851124	0.80[ASN][1000 genomes]
rs4851935	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4851952	1.00[ASN][1000 genomes]
rs4851954	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4851955	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4851959	0.80[ASN][1000 genomes]
rs62157914	0.82[ASN][1000 genomes]
rs6543419	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6543459	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs66464436	0.82[ASN][1000 genomes]
rs6715989	0.82[ASN][1000 genomes]
rs6725543	0.82[ASN][1000 genomes]
rs6742930	0.80[ASN][1000 genomes]
rs6743279	0.94[ASN][1000 genomes]
rs6747344	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750975	0.80[ASN][1000 genomes]
rs6752440	0.94[ASN][1000 genomes]
rs72933220	0.82[ASN][1000 genomes]
rs72950941	0.83[ASN][1000 genomes]
rs7572757	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7578802	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7589018	0.82[ASN][1000 genomes]
rs7598554	0.89[ASN][1000 genomes]
rs7601503	0.96[ASN][1000 genomes]
rs7606070	0.80[ASN][1000 genomes]
rs937726	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1004082	chr2:98792256-98967681	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv535833	chr2:98792256-98967681	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv582513	chr2:98829237-98869914	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv582514	chr2:98835962-98869914	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98850600-98851600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:98850600-98851600	Enhancers	Fetal Stomach	stomach
3	chr2:98851000-98857600	Weak transcription	Brain Substantia Nigra	brain
4	chr2:98851400-98856800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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