Variant report

Variant	rs17574049
Chromosome Location	chr3:19908393-19908394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:19390433..19391079-chr3:19907967..19908843,4	MCF-7	breast:
2	chr3:19389760..19391334-chr3:19907874..19909391,17	MCF-7	breast:
3	chr3:19106302..19107287-chr3:19907999..19908895,3	MCF-7	breast:
4	chr3:17936078..17936595-chr3:19908226..19908883,2	K562	blood:
5	chr3:19389338..19390161-chr3:19907650..19908872,3	MCF-7	breast:
6	chr1:200367178..200368137-chr3:19907997..19908546,2	MCF-7	breast:
7	chr3:19087867..19088435-chr3:19907906..19908471,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10155054	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11128922	0.82[EUR][1000 genomes]
rs11927871	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17180771	1.00[CHB][hapmap];0.85[GIH][hapmap];0.91[ASN][1000 genomes]
rs1872737	1.00[ASN][1000 genomes]
rs2101390	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3849533	1.00[CHB][hapmap];0.85[GIH][hapmap];0.91[ASN][1000 genomes]
rs3916092	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4858147	0.81[EUR][1000 genomes]
rs4858712	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858713	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858714	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4858738	0.81[EUR][1000 genomes]
rs4858739	0.81[EUR][1000 genomes]
rs55669125	0.91[ASN][1000 genomes]
rs55829813	1.00[ASN][1000 genomes]
rs56004950	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59572420	0.91[ASN][1000 genomes]
rs62277272	0.80[EUR][1000 genomes]
rs62277273	0.80[EUR][1000 genomes]
rs62277274	0.81[EUR][1000 genomes]
rs62277276	0.81[EUR][1000 genomes]
rs62277277	0.81[EUR][1000 genomes]
rs62277278	0.81[EUR][1000 genomes]
rs62279119	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279120	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279122	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279123	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279125	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279132	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279133	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62279134	1.00[ASN][1000 genomes]
rs62279135	1.00[ASN][1000 genomes]
rs62279136	1.00[ASN][1000 genomes]
rs62279138	1.00[ASN][1000 genomes]
rs6550213	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66526230	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765020	0.81[EUR][1000 genomes]
rs6801055	0.81[EUR][1000 genomes]
rs73046020	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9809548	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810613	1.00[CHB][hapmap];0.85[GIH][hapmap];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010123	chr3:18990307-19989504	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1004602	chr3:19031671-19930052	Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv536511	chr3:19031671-19930052	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv433358	chr3:19547184-19996508	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1003183	chr3:19671647-19948351	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17574049	EFHB	cis	lung	GTEx
rs17574049	EFHB	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:19908200-19908400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr3:19908200-19908600	Enhancers	Primary B cells from peripheral blood	blood

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