Variant report

Variant	rs7776966
Chromosome Location	chr7:48549633-48549634
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 194 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs10254742	1.00[JPT][hapmap]
rs10256975	1.00[JPT][hapmap]
rs10271606	1.00[JPT][hapmap]
rs10499682	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10499683	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10499684	0.81[JPT][hapmap]
rs1109443	1.00[JPT][hapmap]
rs11185608	0.81[JPT][hapmap]
rs11185609	0.80[JPT][hapmap]
rs12112361	0.83[ASN][1000 genomes]
rs12113920	0.81[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs12113960	0.84[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12667982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12669930	0.93[ASW][hapmap];0.84[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.88[MKK][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12669976	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12670340	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12671073	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12672551	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs12674031	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12674401	0.82[ASN][1000 genomes]
rs1316349	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1316821	0.93[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.85[MEX][hapmap];0.85[MKK][hapmap];0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1317162	0.81[CHD][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs13237819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1405920	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1527835	0.83[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs1527839	0.86[JPT][hapmap]
rs1527840	0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1609212	0.83[ASN][1000 genomes]
rs1609213	0.83[ASN][1000 genomes]
rs1609214	0.83[ASN][1000 genomes]
rs17092931	0.81[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17132335	1.00[JPT][hapmap]
rs17132373	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17132376	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17132383	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17132388	0.86[ASW][hapmap];0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.85[MEX][hapmap];0.88[MKK][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17132402	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs17132417	0.95[ASN][1000 genomes]
rs17132425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17132439	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs17132443	0.83[ASN][1000 genomes]
rs17132460	0.83[ASN][1000 genomes]
rs17132479	0.83[ASN][1000 genomes]
rs17132491	0.83[ASN][1000 genomes]
rs1918580	0.83[ASN][1000 genomes]
rs1918581	0.83[ASN][1000 genomes]
rs1918586	0.83[ASN][1000 genomes]
rs1918587	0.83[ASN][1000 genomes]
rs1918588	0.84[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs1918589	0.83[ASN][1000 genomes]
rs1918594	0.81[JPT][hapmap]
rs1918595	0.81[ASN][1000 genomes]
rs1918596	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1918597	0.83[ASN][1000 genomes]
rs1918598	0.83[ASN][1000 genomes]
rs1918601	0.83[ASN][1000 genomes]
rs1918602	0.88[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs1918606	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs1918608	0.83[ASN][1000 genomes]
rs1918613	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.95[ASN][1000 genomes]
rs2141249	0.91[CHD][hapmap]
rs2141251	0.83[ASN][1000 genomes]
rs2178086	0.83[ASN][1000 genomes]
rs2178087	0.83[ASN][1000 genomes]
rs2222731	0.83[ASN][1000 genomes]
rs2885484	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs34252471	0.83[ASN][1000 genomes]
rs4072501	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4072502	0.81[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs4072503	0.84[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs41332948	0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs4144063	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4144064	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4144067	0.84[CHD][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs4295610	0.83[ASN][1000 genomes]
rs4296993	0.83[ASN][1000 genomes]
rs4398852	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4587280	0.83[ASN][1000 genomes]
rs55903755	0.81[ASN][1000 genomes]
rs56205257	0.83[ASN][1000 genomes]
rs56213942	0.82[ASN][1000 genomes]
rs56232183	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs56241442	0.83[ASN][1000 genomes]
rs56247566	0.87[ASN][1000 genomes]
rs56393952	0.83[ASN][1000 genomes]
rs56798342	0.83[ASN][1000 genomes]
rs56806901	0.83[ASN][1000 genomes]
rs57401097	0.83[ASN][1000 genomes]
rs57877708	0.83[ASN][1000 genomes]
rs58054917	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs58077564	0.83[ASN][1000 genomes]
rs58321909	0.81[ASN][1000 genomes]
rs58433353	0.83[ASN][1000 genomes]
rs58486673	0.83[ASN][1000 genomes]
rs58635193	0.83[ASN][1000 genomes]
rs59100514	0.83[ASN][1000 genomes]
rs59227959	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59243715	0.83[ASN][1000 genomes]
rs59549039	0.83[ASN][1000 genomes]
rs59673264	0.83[ASN][1000 genomes]
rs60184691	0.83[ASN][1000 genomes]
rs60918397	0.83[ASN][1000 genomes]
rs61171557	0.83[ASN][1000 genomes]
rs61310674	0.83[ASN][1000 genomes]
rs61562434	0.95[ASN][1000 genomes]
rs61602397	0.83[ASN][1000 genomes]
rs61649354	0.83[ASN][1000 genomes]
rs6583452	0.83[ASN][1000 genomes]
rs6583456	0.85[CHB][hapmap];0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs66522605	0.83[ASN][1000 genomes]
rs66591834	0.83[ASN][1000 genomes]
rs66729625	0.83[ASN][1000 genomes]
rs66763020	0.83[ASN][1000 genomes]
rs66785002	0.83[ASN][1000 genomes]
rs66793444	0.83[ASN][1000 genomes]
rs66909576	0.83[ASN][1000 genomes]
rs67001204	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs67040412	0.81[ASN][1000 genomes]
rs67074321	0.83[ASN][1000 genomes]
rs67081192	0.83[ASN][1000 genomes]
rs67163301	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs67187623	0.83[ASN][1000 genomes]
rs67208890	0.81[ASN][1000 genomes]
rs67249167	0.83[ASN][1000 genomes]
rs67249859	0.83[ASN][1000 genomes]
rs67298249	0.83[ASN][1000 genomes]
rs67316911	0.82[ASN][1000 genomes]
rs67331245	0.83[ASN][1000 genomes]
rs67370671	0.83[ASN][1000 genomes]
rs67398358	0.83[ASN][1000 genomes]
rs67744396	0.83[ASN][1000 genomes]
rs67744565	0.83[ASN][1000 genomes]
rs67748204	0.83[ASN][1000 genomes]
rs67764854	0.83[ASN][1000 genomes]
rs67845756	0.83[ASN][1000 genomes]
rs67852079	0.83[ASN][1000 genomes]
rs67985903	0.83[ASN][1000 genomes]
rs68007434	0.83[ASN][1000 genomes]
rs68029531	0.83[ASN][1000 genomes]
rs68084496	0.83[ASN][1000 genomes]
rs68110103	0.83[ASN][1000 genomes]
rs68168969	0.83[ASN][1000 genomes]
rs68179951	0.83[ASN][1000 genomes]
rs6944801	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6954223	0.81[ASN][1000 genomes]
rs6955102	0.83[ASN][1000 genomes]
rs6957309	0.83[ASN][1000 genomes]
rs6963717	0.83[ASN][1000 genomes]
rs6966994	0.83[ASN][1000 genomes]
rs6968069	0.92[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6970434	0.81[ASN][1000 genomes]
rs6972202	0.83[ASN][1000 genomes]
rs6972440	0.82[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6973231	1.00[JPT][hapmap]
rs6977997	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6980042	0.83[ASN][1000 genomes]
rs6980069	0.83[ASN][1000 genomes]
rs73094625	0.83[ASN][1000 genomes]
rs73107574	0.95[ASN][1000 genomes]
rs73109344	0.83[ASN][1000 genomes]
rs73109355	0.83[ASN][1000 genomes]
rs73109362	0.81[ASN][1000 genomes]
rs73109364	0.83[ASN][1000 genomes]
rs73109382	0.81[ASN][1000 genomes]
rs73109385	0.81[ASN][1000 genomes]
rs73109399	0.81[ASN][1000 genomes]
rs73109401	0.83[ASN][1000 genomes]
rs73111405	0.83[ASN][1000 genomes]
rs7455877	0.83[ASN][1000 genomes]
rs7457791	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs7778895	0.82[ASN][1000 genomes]
rs7781149	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7781150	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7785069	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7791044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7797852	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804139	0.83[ASN][1000 genomes]
rs7806480	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs7807529	0.84[CHD][hapmap];0.86[JPT][hapmap];0.85[MEX][hapmap];0.83[ASN][1000 genomes]
rs7810275	0.81[ASN][1000 genomes]
rs9690617	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs9691143	0.83[ASN][1000 genomes]
rs9691391	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2761325	chr7:48409639-48557382	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv830992	chr7:48497408-48686442	Weak transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7776966	C7orf57	cis	cerebellum	SCAN
rs7776966	GRB10	cis	cerebellum	SCAN
rs7776966	H2AFV	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48511600-48554400	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:48523800-48574000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:48546400-48553600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:48547600-48570600	Weak transcription	Spleen	Spleen

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