Variant report

Variant	rs4722903
Chromosome Location	chr7:3572028-3572029
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1010002	0.82[JPT][hapmap]
rs10215198	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10226719	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.91[ASN][1000 genomes]
rs10235080	0.82[JPT][hapmap]
rs10235617	0.82[JPT][hapmap]
rs10237328	0.82[JPT][hapmap]
rs10245071	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs10250929	0.86[YRI][hapmap]
rs10257937	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10264803	0.82[JPT][hapmap]
rs10274012	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs10485876	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs10951207	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes]
rs10951254	0.91[CEU][hapmap]
rs10951255	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs10951265	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs10951266	0.86[ASN][1000 genomes]
rs11760339	0.82[JPT][hapmap]
rs11765058	1.00[JPT][hapmap]
rs11766767	0.82[JPT][hapmap]
rs11768609	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11769660	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11770829	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs11771990	0.86[ASN][1000 genomes]
rs11773388	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs12531560	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12531698	0.90[CEU][hapmap]
rs12533563	0.86[ASN][1000 genomes]
rs12534865	0.86[ASN][1000 genomes]
rs12535467	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12536371	0.86[ASN][1000 genomes]
rs12536753	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12537980	0.86[ASN][1000 genomes]
rs12539289	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12539805	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs12540148	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs12540209	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12673946	0.82[JPT][hapmap]
rs12701005	0.81[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs12701014	1.00[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs13223065	1.00[JPT][hapmap]
rs13223852	1.00[JPT][hapmap]
rs13239833	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13240060	1.00[CHB][hapmap]
rs13240393	0.88[ASN][1000 genomes]
rs13242531	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs17320730	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs1922011	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1922016	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2033441	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs2099302	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs2341579	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2341580	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2341584	1.00[JPT][hapmap]
rs2341586	1.00[JPT][hapmap]
rs2614950	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[ASN][1000 genomes]
rs2614951	0.94[ASN][1000 genomes]
rs2614955	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.89[ASN][1000 genomes]
rs2614957	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[YRI][hapmap]
rs2686851	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2705609	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs2705614	0.91[ASN][1000 genomes]
rs28484810	0.80[EUR][1000 genomes]
rs2880085	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs34108699	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34369020	0.86[ASN][1000 genomes]
rs34703718	0.88[ASN][1000 genomes]
rs35513976	0.86[ASN][1000 genomes]
rs3919653	0.82[JPT][hapmap]
rs4236325	0.82[JPT][hapmap]
rs4342491	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4363091	0.82[JPT][hapmap]
rs4719964	0.82[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.92[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4719998	0.86[ASN][1000 genomes]
rs4719999	0.86[ASN][1000 genomes]
rs4720001	0.83[ASN][1000 genomes]
rs4722951	0.90[CEU][hapmap]
rs4722976	0.86[ASN][1000 genomes]
rs4723001	0.82[JPT][hapmap]
rs62437895	0.86[ASN][1000 genomes]
rs67062941	0.86[ASN][1000 genomes]
rs6974872	0.81[ASN][1000 genomes]
rs71527450	0.86[ASN][1000 genomes]
rs956393	1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs9648355	1.00[CHB][hapmap];0.82[JPT][hapmap];0.92[YRI][hapmap]
rs968775	0.82[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv528715	chr7:3451251-3598581	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv605902	chr7:3464896-3598581	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv464270	chr7:3490865-3581357	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv605904	chr7:3490865-3581357	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	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
12	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
13	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
14	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
15	nsv1030363	chr7:3541046-3577665	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv1027274	chr7:3561252-3602457	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv538676	chr7:3561252-3602457	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
25	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
26	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
27	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
28	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4722903	RNF216L	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3549400-3577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:3567600-3579800	Weak transcription	Spleen	Spleen
3	chr7:3569200-3572800	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr7:3572000-3572600	Enhancers	Gastric	stomach
5	chr7:3572000-3572600	Enhancers	Pancreas	Pancrea

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