Variant report

Variant	rs13323946
Chromosome Location	chr3:116088116-116088117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10212415	0.86[ASN][1000 genomes]
rs10212559	0.86[ASN][1000 genomes]
rs1030577	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10513826	0.81[CHD][hapmap]
rs11924642	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11928524	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12695326	1.00[ASN][1000 genomes]
rs13068349	0.97[ASN][1000 genomes]
rs13069948	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs13070962	0.88[CEU][hapmap];0.88[CHB][hapmap];0.90[CHD][hapmap];0.86[ASN][1000 genomes]
rs13073414	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs13077694	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13079395	0.90[JPT][hapmap]
rs13088599	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1367770	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1583183	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16824787	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1731596	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.85[ASN][1000 genomes]
rs17647031	0.90[JPT][hapmap]
rs17647091	0.84[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17703257	0.90[JPT][hapmap]
rs1920183	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2033406	0.83[JPT][hapmap]
rs2867100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34642483	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35061171	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41442746	0.81[CHD][hapmap]
rs4271908	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4831096	0.88[CEU][hapmap];0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs4831097	0.81[CHD][hapmap]
rs4831131	0.83[JPT][hapmap]
rs4831133	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4831134	1.00[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4831136	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4831138	0.86[ASN][1000 genomes]
rs6438315	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6775240	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6786130	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs71323440	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71625206	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7619907	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7629472	0.87[ASN][1000 genomes]
rs7630011	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7634137	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7637573	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.86[ASN][1000 genomes]
rs7652554	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7652923	0.86[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9289050	0.86[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9289051	1.00[CEU][hapmap];0.88[CHB][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9823016	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9823782	0.83[JPT][hapmap]
rs9827984	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9833356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838534	0.88[CEU][hapmap];0.88[CHB][hapmap];0.95[CHD][hapmap];0.87[ASN][1000 genomes]
rs9860105	0.86[ASN][1000 genomes]
rs9860236	0.89[ASN][1000 genomes]
rs9860260	1.00[CEU][hapmap];0.88[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9861474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9870357	0.83[JPT][hapmap]
rs9989972	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9990359	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877361	chr3:116017931-116138039	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv437338	chr3:116076289-116110635	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2757005	chr3:116085678-116121948	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv2759170	chr3:116085678-116121948	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13323946	C3orf1	cis	cerebellum	SCAN
rs13323946	GAP43	cis	lymphoblastoid	seeQTL
rs13323946	GTF2E1	cis	cerebellum	SCAN
rs13323946	RNF152	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:116087400-116088800	Enhancers	Colon Smooth Muscle	Colon
2	chr3:116087800-116088400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr3:116088000-116088200	Enhancers	Brain Anterior Caudate	brain
4	chr3:116088000-116088400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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