Variant report

Variant	rs1583483
Chromosome Location	chr2:212224689-212224690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10048757	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs11895168	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12475523	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014117	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs13025037	0.90[ASN][1000 genomes]
rs1595062	0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1595065	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1816533	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1821656	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1836724	0.96[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.92[JPT][hapmap];0.83[MEX][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1972820	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2033648	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3791692	1.00[JPT][hapmap]
rs3828243	0.85[JPT][hapmap]
rs4672610	0.83[EUR][1000 genomes]
rs4672612	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4673610	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710253	1.00[JPT][hapmap]
rs6727172	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6728196	0.82[ASN][1000 genomes]
rs6747894	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs934607	0.86[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[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	nsv834522	chr2:212066442-212225328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv584313	chr2:212176967-212224689	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv875776	chr2:212196908-212264818	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1583483	UNC80	cis	parietal	SCAN
rs1583483	PIKFYVE	cis	parietal	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212214200-212232000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:212222600-212225800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr2:212222800-212227200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:212223000-212227000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:212223200-212225800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:212223200-212227400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:212223400-212224800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:212223400-212225800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:212223400-212226000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr2:212224000-212227400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:212224200-212224800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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