Variant report

Variant	rs10206947
Chromosome Location	chr2:63425505-63425506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10173115	0.86[CHB][hapmap]
rs1025131	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs11682642	0.86[YRI][hapmap]
rs11687645	0.86[YRI][hapmap]
rs11890276	0.86[CHB][hapmap]
rs11895059	0.86[YRI][hapmap]
rs11899838	0.84[GIH][hapmap]
rs11899999	0.90[YRI][hapmap]
rs12615652	0.86[YRI][hapmap]
rs12615947	0.90[GIH][hapmap];0.85[MKK][hapmap];0.86[YRI][hapmap]
rs12713488	0.82[YRI][hapmap]
rs12988058	0.86[YRI][hapmap]
rs13021322	0.82[YRI][hapmap]
rs13034195	0.81[CHB][hapmap]
rs13386979	0.83[GIH][hapmap];0.81[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap]
rs13389366	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1356388	0.86[YRI][hapmap]
rs1607201	0.86[YRI][hapmap]
rs1829524	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs1996401	0.82[YRI][hapmap]
rs2138796	0.86[YRI][hapmap]
rs2138798	0.90[GIH][hapmap]
rs2421860	0.86[YRI][hapmap]
rs3768677	0.86[YRI][hapmap]
rs4316930	1.00[ASW][hapmap];0.84[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.80[MEX][hapmap];0.99[MKK][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4671457	0.83[YRI][hapmap]
rs4671465	0.81[CHB][hapmap];0.84[GIH][hapmap]
rs4671492	0.86[YRI][hapmap]
rs4671495	0.81[YRI][hapmap]
rs6728488	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs6758966	0.81[CHB][hapmap];0.82[GIH][hapmap]
rs7599208	0.86[YRI][hapmap]
rs932173	0.85[YRI][hapmap]
rs9808380	0.86[YRI][hapmap]
rs984682	0.82[ASW][hapmap];0.86[GIH][hapmap];0.83[TSI][hapmap];0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv470468	chr2:63374063-63449512	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv535768	chr2:63413596-63631407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10206947	PAPOLG	cis	cerebellum	SCAN
rs10206947	BAG1	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63416400-63435800	Weak transcription	Ovary	ovary
2	chr2:63416600-63433600	Weak transcription	Aorta	Aorta
3	chr2:63421400-63425600	Enhancers	HepG2	liver
4	chr2:63425400-63430600	Weak transcription	Gastric	stomach

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