Variant report

Variant	rs9311738
Chromosome Location	chr3:59884024-59884025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11915344	1.00[ASN][1000 genomes]
rs11920587	1.00[ASN][1000 genomes]
rs11924342	1.00[CHD][hapmap]
rs17061316	0.83[ASN][1000 genomes]
rs17061318	0.83[ASN][1000 genomes]
rs17061320	0.83[ASN][1000 genomes]
rs17061321	0.83[ASN][1000 genomes]
rs17061322	0.83[ASN][1000 genomes]
rs17061326	0.83[ASN][1000 genomes]
rs17061331	0.83[ASN][1000 genomes]
rs17061340	1.00[ASN][1000 genomes]
rs17061346	1.00[ASN][1000 genomes]
rs17061373	1.00[ASN][1000 genomes]
rs17061385	1.00[ASN][1000 genomes]
rs17061388	0.83[CEU][hapmap];1.00[CHD][hapmap];0.83[EUR][1000 genomes]
rs17061428	1.00[ASN][1000 genomes]
rs17299801	0.83[CEU][hapmap];1.00[CHD][hapmap];0.84[EUR][1000 genomes]
rs1817587	0.83[ASN][1000 genomes]
rs294451	1.00[CHD][hapmap];0.88[MEX][hapmap];1.00[ASN][1000 genomes]
rs56122642	1.00[ASN][1000 genomes]
rs56838688	1.00[ASN][1000 genomes]
rs59843181	1.00[ASN][1000 genomes]
rs604398	0.83[ASN][1000 genomes]
rs628404	0.83[ASN][1000 genomes]
rs6446087	1.00[ASN][1000 genomes]
rs687069	0.85[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.88[MEX][hapmap];0.80[TSI][hapmap]
rs72872953	0.83[ASN][1000 genomes]
rs73100608	0.80[EUR][1000 genomes]
rs73100647	0.82[EUR][1000 genomes]
rs73839564	0.83[ASN][1000 genomes]
rs73839568	1.00[ASN][1000 genomes]
rs73839569	1.00[ASN][1000 genomes]
rs73839584	1.00[ASN][1000 genomes]
rs73839586	1.00[ASN][1000 genomes]
rs73839587	1.00[ASN][1000 genomes]
rs73839592	1.00[ASN][1000 genomes]
rs73839594	1.00[ASN][1000 genomes]
rs73839596	1.00[ASN][1000 genomes]
rs750793	1.00[CHD][hapmap]
rs9284900	1.00[ASN][1000 genomes]
rs9311733	0.83[ASN][1000 genomes]
rs9311739	1.00[ASN][1000 genomes]
rs9819258	1.00[CHD][hapmap];0.81[MEX][hapmap];0.83[ASN][1000 genomes]
rs9841531	0.83[ASN][1000 genomes]
rs9844365	1.00[CHD][hapmap];0.81[MEX][hapmap];1.00[ASN][1000 genomes]
rs9851805	1.00[ASN][1000 genomes]
rs9868156	1.00[CHD][hapmap];0.88[MEX][hapmap]
rs9871827	1.00[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	nsv1014601	chr3:59666609-59888166	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv460564	chr3:59821071-59927727	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv590384	chr3:59821071-59927727	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv590386	chr3:59846067-59912377	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1002104	chr3:59875996-59907597	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv1803070	chr3:59880142-59887862	Enhancers Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
8	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9311738	PRL	trans	lymphoblastoid	seeQTL
rs9311738	EHBP1	trans	cerebellum	SCAN
rs9311738	FEZF2	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59872600-59884200	Weak transcription	Dnd41	blood
2	chr3:59873200-59904200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:59882000-59886600	Weak transcription	Pancreas	Pancrea
4	chr3:59882800-59890200	Weak transcription	Fetal Thymus	thymus
5	chr3:59883000-59884200	Weak transcription	Fetal Heart	heart
6	chr3:59883200-59893000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:59883400-59884400	Weak transcription	Primary T cells from cord blood	blood
8	chr3:59883400-59885600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:59883400-59890200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr3:59884000-59884200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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