Variant report

Variant	rs768721
Chromosome Location	chr7:3870810-3870811
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	chr7:3869441..3873485-chr7:3874095..3876939,3	MCF-7	breast:

Extended variants
information (count: 148 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10085400	0.82[JPT][hapmap]
rs10085568	0.82[JPT][hapmap]
rs1013880	0.82[JPT][hapmap]
rs10215004	0.82[JPT][hapmap]
rs10215340	0.82[JPT][hapmap]
rs10241703	0.82[JPT][hapmap]
rs10242459	0.82[JPT][hapmap]
rs10244636	0.82[JPT][hapmap]
rs10245389	0.82[JPT][hapmap]
rs10246449	0.82[JPT][hapmap]
rs10250659	0.82[JPT][hapmap]
rs10254099	0.82[JPT][hapmap]
rs10256504	1.00[CHB][hapmap]
rs10256741	0.82[JPT][hapmap]
rs10263496	0.82[JPT][hapmap]
rs10267786	0.82[JPT][hapmap]
rs10273444	0.82[JPT][hapmap]
rs10274618	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10479833	0.82[JPT][hapmap]
rs10479834	0.82[JPT][hapmap]
rs10951336	0.82[JPT][hapmap]
rs10951374	0.82[JPT][hapmap]
rs11514766	0.82[JPT][hapmap]
rs11974190	0.82[JPT][hapmap]
rs11976915	0.82[JPT][hapmap]
rs11977993	0.82[JPT][hapmap]
rs11982345	0.82[JPT][hapmap]
rs11983563	0.82[JPT][hapmap]
rs12113979	0.85[ASN][1000 genomes]
rs12155211	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12155451	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12531046	0.82[JPT][hapmap]
rs12531984	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12532171	0.82[JPT][hapmap]
rs12532903	0.82[JPT][hapmap]
rs12532912	0.82[JPT][hapmap]
rs12533946	0.82[JPT][hapmap]
rs12536445	0.82[JPT][hapmap]
rs12537696	0.82[JPT][hapmap]
rs12538997	0.82[JPT][hapmap]
rs12539695	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12540101	0.82[JPT][hapmap]
rs12690803	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs12690804	0.82[JPT][hapmap]
rs12701219	0.82[JPT][hapmap]
rs12701221	0.82[JPT][hapmap]
rs12701229	0.82[JPT][hapmap]
rs12701262	0.82[JPT][hapmap]
rs13221624	0.82[JPT][hapmap]
rs13236653	0.82[JPT][hapmap]
rs13245096	0.82[JPT][hapmap]
rs1476644	0.82[JPT][hapmap]
rs1548612	0.82[JPT][hapmap]
rs1548613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1548614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1548615	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs1548617	1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs17259867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17259924	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17261199	0.82[JPT][hapmap]
rs17324947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17325157	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17325709	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1962783	0.82[JPT][hapmap]
rs1962784	0.82[JPT][hapmap]
rs1962785	0.82[JPT][hapmap]
rs2007554	0.82[JPT][hapmap]
rs2057920	0.82[JPT][hapmap]
rs2057921	0.82[JPT][hapmap]
rs2079376	0.82[JPT][hapmap]
rs2341959	0.82[JPT][hapmap]
rs2880204	0.82[JPT][hapmap]
rs41873	0.82[JPT][hapmap]
rs4431501	0.82[JPT][hapmap]
rs56316331	0.88[ASN][1000 genomes]
rs56403834	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56863187	0.92[ASN][1000 genomes]
rs58215957	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60438481	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62437947	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6462407	0.82[JPT][hapmap]
rs6462411	0.82[JPT][hapmap]
rs6462413	0.82[JPT][hapmap]
rs67200393	0.90[ASN][1000 genomes]
rs67724049	0.90[ASN][1000 genomes]
rs6943646	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6944393	0.82[JPT][hapmap]
rs6945255	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs6946432	1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs6948552	0.82[JPT][hapmap]
rs6952864	0.82[JPT][hapmap]
rs6953282	0.82[JPT][hapmap]
rs6953604	0.82[JPT][hapmap]
rs6955230	0.87[CEU][hapmap];0.86[GIH][hapmap];0.95[ASN][1000 genomes]
rs6955650	0.82[JPT][hapmap]
rs6956479	0.82[JPT][hapmap]
rs6957166	0.82[JPT][hapmap]
rs6958535	0.82[JPT][hapmap]
rs6959492	0.82[JPT][hapmap]
rs6959674	0.82[JPT][hapmap]
rs6959835	0.82[JPT][hapmap]
rs6961561	0.82[JPT][hapmap]
rs6962389	0.82[JPT][hapmap]
rs6963674	0.82[JPT][hapmap]
rs6966030	0.82[JPT][hapmap]
rs6968948	0.82[JPT][hapmap]
rs6969052	0.82[JPT][hapmap]
rs6970116	0.82[JPT][hapmap]
rs6971803	0.82[JPT][hapmap]
rs6971828	0.82[JPT][hapmap]
rs6971873	0.82[JPT][hapmap]
rs6971953	0.82[JPT][hapmap]
rs6972806	0.82[JPT][hapmap]
rs6976827	1.00[CHB][hapmap]
rs6977305	0.82[JPT][hapmap]
rs6977475	0.90[ASN][1000 genomes]
rs6977844	0.82[JPT][hapmap]
rs6978305	0.97[ASN][1000 genomes]
rs6980085	0.82[JPT][hapmap]
rs73032391	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73032394	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73034490	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73036418	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73036421	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73310047	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7778705	0.82[JPT][hapmap]
rs7783415	0.82[JPT][hapmap]
rs7786556	0.82[JPT][hapmap]
rs7791274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794504	0.82[JPT][hapmap]
rs7800775	0.82[JPT][hapmap]
rs7804166	0.82[JPT][hapmap]
rs7807003	0.82[JPT][hapmap]
rs917168	1.00[JPT][hapmap]
rs9655007	0.82[JPT][hapmap]
rs9986911	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv1021650	chr7:3665232-4577439	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1021443	chr7:3705273-3889334	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1027624	chr7:3808366-3923408	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv538684	chr7:3808366-3923408	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1029406	chr7:3860894-4477095	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv538685	chr7:3860894-4477095	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1026410	chr7:3869104-4383606	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv887336	chr7:3870810-3934909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs768721	MAFK	cis	parietal	SCAN
rs768721	ELFN1	cis	parietal	SCAN
rs768721	RBAK	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3848400-3882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3849400-3880600	Weak transcription	Aorta	Aorta
3	chr7:3861000-3886400	Weak transcription	Pancreas	Pancrea

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