Variant report

Variant	rs6942733
Chromosome Location	chr7:100350763-100350764
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:100349143..100350800-chr7:100355026..100357418,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10232130	0.89[JPT][hapmap]
rs10247980	0.89[JPT][hapmap]
rs10953302	0.86[ASW][hapmap];0.86[CEU][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10953303	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11520986	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs11772464	0.89[ASN][1000 genomes]
rs11974395	0.80[CEU][hapmap];0.81[TSI][hapmap]
rs11979818	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[YRI][hapmap]
rs11983334	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs2075669	0.88[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2231172	0.84[ASW][hapmap]
rs2272572	0.81[TSI][hapmap]
rs2293767	0.91[CEU][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap]
rs3891039	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4727459	0.81[CEU][hapmap];0.81[TSI][hapmap]
rs4729602	0.81[CEU][hapmap]
rs4729606	1.00[ASW][hapmap];0.85[CEU][hapmap];0.83[LWK][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs4729607	0.85[CEU][hapmap]
rs482308	0.83[ASN][1000 genomes]
rs484921	0.81[ASN][1000 genomes]
rs489830	0.81[ASN][1000 genomes]
rs489951	0.95[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs531503	0.80[CHD][hapmap];0.86[MEX][hapmap]
rs62483592	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62483598	0.89[ASN][1000 genomes]
rs62483599	0.89[ASN][1000 genomes]
rs6971700	0.86[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv888791	chr7:100221867-100371114	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv607933	chr7:100240191-100365613	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv1804951	chr7:100275135-100374093	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
8	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3436716	chr7:100347416-100352414	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
10	esv3504005	chr7:100348216-100351814	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
11	esv3425729	chr7:100348541-100351889	Bivalent Enhancer Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
12	esv3504006	chr7:100348616-100351664	Enhancers Weak transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
13	esv3504008	chr7:100348616-100351664	Bivalent Enhancer Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6942733	BRI3	cis	cerebellum	SCAN
rs6942733	MOSPD3	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100343200-100356000	Weak transcription	Right Atrium	heart
2	chr7:100349000-100355800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:100349200-100351000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:100350600-100350800	Enhancers	Hela-S3	cervix

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