Variant report

Variant	rs6928769
Chromosome Location	chr6:35174858-35174859
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35168653..35170985-chr6:35173621..35175811,2	MCF-7	breast:
2	chr6:35173439..35175719-chr6:35204862..35206490,2	K562	blood:
3	chr6:35172932..35174925-chr6:35178829..35181429,2	K562	blood:
4	chr6:35116601..35118172-chr6:35173986..35176309,2	MCF-7	breast:

Extended variants
information (count: 132 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10080361	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1013907	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10755687	0.86[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.83[ASN][1000 genomes]
rs10807150	0.83[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs10947540	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[ASN][1000 genomes]
rs10947542	0.81[ASN][1000 genomes]
rs1108709	0.89[ASN][1000 genomes]
rs1194	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12173347	0.81[ASN][1000 genomes]
rs12173582	0.94[CHD][hapmap];0.95[JPT][hapmap]
rs12211765	0.84[ASN][1000 genomes]
rs13214290	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[ASN][1000 genomes]
rs1557567	0.83[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs1557568	0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.87[ASN][1000 genomes]
rs1590381	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1888822	0.81[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.93[MEX][hapmap];0.89[ASN][1000 genomes]
rs1888823	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.93[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1888824	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[ASN][1000 genomes]
rs1888825	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[ASN][1000 genomes]
rs1894650	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1894651	0.88[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1894652	0.93[ASN][1000 genomes]
rs1894653	0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1929847	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1929848	0.82[ASW][hapmap];0.81[CEU][hapmap];0.86[MKK][hapmap];0.90[YRI][hapmap];0.80[AFR][1000 genomes]
rs1929849	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1987673	0.83[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.89[ASN][1000 genomes]
rs2006184	0.91[ASN][1000 genomes]
rs2018373	0.89[ASN][1000 genomes]
rs2032538	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs2071920	0.83[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.87[ASN][1000 genomes]
rs2183834	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2267657	0.83[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.85[ASN][1000 genomes]
rs2267658	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267660	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267661	0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267662	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2267664	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2284195	0.96[ASN][1000 genomes]
rs2395614	0.83[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs34156110	0.85[ASN][1000 genomes]
rs3777742	0.84[ASN][1000 genomes]
rs3777743	0.84[ASN][1000 genomes]
rs3777744	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs3798342	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3798343	0.94[CHD][hapmap];0.95[JPT][hapmap]
rs3800382	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3800383	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3800385	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[ASN][1000 genomes]
rs3800386	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3800387	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3800388	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3800392	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800393	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3800396	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800398	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800399	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3800401	0.83[ASN][1000 genomes]
rs4583983	0.85[ASN][1000 genomes]
rs4711409	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711411	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[ASN][1000 genomes]
rs4711413	0.93[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4711414	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4713841	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4713845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4713847	0.83[ASN][1000 genomes]
rs4713848	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs58925593	0.92[ASN][1000 genomes]
rs62403575	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6457812	0.83[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs68164647	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6902523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6906987	0.81[ASN][1000 genomes]
rs6907324	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6907364	0.82[ASN][1000 genomes]
rs6907573	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6907795	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6913037	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6913475	0.81[ASN][1000 genomes]
rs6913941	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6916364	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6919534	0.81[CEU][hapmap];0.81[MKK][hapmap];0.86[YRI][hapmap]
rs6920432	0.80[ASN][1000 genomes]
rs6920747	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6927730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6930562	0.83[ASN][1000 genomes]
rs6933979	0.83[CHB][hapmap];0.83[CHD][hapmap];0.89[GIH][hapmap]
rs6938946	0.94[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.93[ASN][1000 genomes]
rs6940375	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6941471	0.85[ASN][1000 genomes]
rs72909061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757316	0.80[ASN][1000 genomes]
rs7763946	0.98[ASN][1000 genomes]
rs7769906	0.96[ASN][1000 genomes]
rs7772212	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8205	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs914547	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9296144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9348970	0.88[CEU][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9366882	0.83[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs9366883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9366885	0.84[ASN][1000 genomes]
rs9368854	0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9368857	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9368859	0.84[ASN][1000 genomes]
rs9368860	0.84[ASN][1000 genomes]
rs9380497	0.83[ASN][1000 genomes]
rs9380498	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9380500	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs9380501	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380502	0.87[ASN][1000 genomes]
rs9394283	0.98[ASN][1000 genomes]
rs9394288	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9394289	0.96[ASN][1000 genomes]
rs9462065	0.83[CHB][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs9462072	0.81[ASN][1000 genomes]
rs9469953	0.83[CHB][hapmap];0.81[CHD][hapmap];0.89[GIH][hapmap]
rs9469958	0.81[ASN][1000 genomes]
rs9469964	1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.98[ASN][1000 genomes]
rs9469972	0.83[CHB][hapmap];0.92[CHD][hapmap];0.85[GIH][hapmap];0.82[JPT][hapmap];0.93[MEX][hapmap];0.87[ASN][1000 genomes]
rs9469975	0.86[ASN][1000 genomes]
rs9469979	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9469982	0.88[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs9469998	0.80[ASN][1000 genomes]
rs965272	0.87[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs968828	0.89[ASN][1000 genomes]
rs975496	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs991145	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3428128	chr6:35150524-35225843	Bivalent Enhancer Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2758047	chr6:35168116-35291002	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2759419	chr6:35168116-35291002	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6928769	DEF6	cis	multi-tissue	Pritchard
rs6928769	TULP1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35168200-35176200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:35169800-35175000	Enhancers	Osteobl	bone
3	chr6:35171400-35177600	Weak transcription	Fetal Heart	heart
4	chr6:35174600-35180600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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