Variant report

Variant	rs2222868
Chromosome Location	chr7:3600594-3600595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3596799..3598779-chr7:3598841..3601044,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10085617	1.00[CEU][hapmap];0.83[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10227320	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10232765	0.85[JPT][hapmap]
rs10234480	0.85[ASN][1000 genomes]
rs10235815	0.81[JPT][hapmap]
rs10242223	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs10246895	0.81[JPT][hapmap]
rs10255605	0.85[JPT][hapmap]
rs10262464	0.81[JPT][hapmap]
rs10262783	0.86[JPT][hapmap]
rs10270365	0.81[JPT][hapmap]
rs10274899	0.82[EUR][1000 genomes]
rs10277545	0.85[JPT][hapmap]
rs10278205	0.85[JPT][hapmap]
rs10281401	0.81[JPT][hapmap]
rs10454314	0.85[JPT][hapmap]
rs10499327	0.85[JPT][hapmap]
rs10951245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11761186	0.81[JPT][hapmap]
rs11764387	0.81[JPT][hapmap]
rs11764509	0.81[JPT][hapmap]
rs11765903	0.86[JPT][hapmap]
rs11767639	0.82[CEU][hapmap]
rs11771359	0.85[JPT][hapmap]
rs11977306	0.81[JPT][hapmap]
rs11981092	0.86[JPT][hapmap]
rs1202223	0.88[CEU][hapmap];0.85[JPT][hapmap];0.80[EUR][1000 genomes]
rs1202225	0.81[EUR][1000 genomes]
rs1202226	0.80[ASN][1000 genomes]
rs1202229	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1202232	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1202233	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs12667184	0.81[JPT][hapmap]
rs12700827	0.81[JPT][hapmap]
rs1357309	0.85[JPT][hapmap]
rs1357310	0.86[JPT][hapmap]
rs1357312	0.85[JPT][hapmap]
rs1403159	0.80[JPT][hapmap]
rs1464534	0.80[JPT][hapmap]
rs1554497	0.81[JPT][hapmap]
rs1554498	0.81[JPT][hapmap]
rs1554502	0.85[JPT][hapmap]
rs1882431	0.86[JPT][hapmap]
rs1915981	0.85[JPT][hapmap]
rs1915982	0.86[JPT][hapmap]
rs1922012	0.92[CEU][hapmap];0.99[ASN][1000 genomes]
rs1922018	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2090940	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs2140114	0.85[JPT][hapmap]
rs2141823	0.86[CHB][hapmap];0.90[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2163687	0.89[JPT][hapmap]
rs2177167	0.81[JPT][hapmap]
rs2178625	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2178627	0.91[JPT][hapmap];0.90[YRI][hapmap]
rs2178628	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2204121	0.81[JPT][hapmap]
rs2614956	0.81[JPT][hapmap]
rs2686852	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2705600	0.91[ASN][1000 genomes]
rs2705608	0.82[CHB][hapmap]
rs2705613	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs28735285	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2879918	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4302734	0.85[JPT][hapmap]
rs4416738	0.92[ASN][1000 genomes]
rs4722735	0.81[JPT][hapmap]
rs4722830	0.85[JPT][hapmap]
rs4722850	0.80[JPT][hapmap]
rs4723015	0.81[JPT][hapmap]
rs6415253	0.82[JPT][hapmap]
rs6415254	0.86[JPT][hapmap]
rs6462040	0.81[JPT][hapmap]
rs6462068	0.81[JPT][hapmap]
rs6462069	0.81[JPT][hapmap]
rs6462166	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67199766	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6946678	0.81[JPT][hapmap]
rs6967281	0.85[JPT][hapmap]
rs6969082	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6969267	0.81[JPT][hapmap]
rs6969407	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7779688	0.81[JPT][hapmap]
rs7790430	0.85[JPT][hapmap]
rs7791343	0.81[JPT][hapmap]
rs7794534	0.81[JPT][hapmap]
rs7798141	0.81[JPT][hapmap]
rs7802106	0.85[JPT][hapmap]
rs7807065	0.89[JPT][hapmap]
rs7809446	0.81[JPT][hapmap]
rs7811384	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs939912	0.85[JPT][hapmap]
rs939913	0.82[CHB][hapmap]
rs9791502	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9791974	0.82[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9969296	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018173	chr7:3258989-3879848	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv538660	chr7:3258989-3879848	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1016555	chr7:3298478-3872512	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538661	chr7:3298478-3872512	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2764026	chr7:3365002-3618361	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv916071	chr7:3423207-3697428	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1034716	chr7:3512406-3616155	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887334	chr7:3531275-3635105	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1023888	chr7:3539750-3638242	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv1034298	chr7:3539750-3646251	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1029264	chr7:3549193-3622532	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1032031	chr7:3554760-3609584	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv538675	chr7:3554760-3609584	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv464271	chr7:3556132-3605340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv605905	chr7:3556132-3605340	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1025623	chr7:3558521-3606640	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv605906	chr7:3559826-3605340	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv1027274	chr7:3561252-3602457	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv538676	chr7:3561252-3602457	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1034671	chr7:3565156-3607294	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv538677	chr7:3565156-3607294	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1028274	chr7:3565356-3607155	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv538678	chr7:3565356-3607155	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv830888	chr7:3577214-3776276	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
25	esv1840932	chr7:3585560-3618827	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1792280	chr7:3592290-3668229	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv605907	chr7:3598581-3614784	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3598400-3600600	Enhancers	Fetal Brain Male	brain
2	chr7:3599400-3602200	Enhancers	Fetal Intestine Large	intestine
3	chr7:3600200-3600600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3600200-3600600	Enhancers	Fetal Muscle Trunk	muscle
5	chr7:3600200-3600600	Enhancers	Gastric	stomach
6	chr7:3600200-3601000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:3600200-3601200	Enhancers	Pancreas	Pancrea
8	chr7:3600200-3602200	Enhancers	Fetal Intestine Small	intestine

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