Variant report

Variant	rs10802802
Chromosome Location	chr1:239909942-239909943
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1014670	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1019881	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1019882	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10737838	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10802793	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10802794	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10802795	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10802798	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10802801	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10925964	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10925970	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1155611	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11579382	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11583349	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11585281	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12029701	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060884	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12118652	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12403497	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12407154	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12743042	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12751235	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1416789	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1431719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1431721	0.88[CEU][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs1544170	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2217532	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2278642	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278643	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278644	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2355238	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3738436	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6429154	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6663632	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6684622	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6695600	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs717227	0.85[GIH][hapmap]
rs7511970	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7513746	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7513757	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537514	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552453	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs891700	0.85[GIH][hapmap]
rs934344	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]

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	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers 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	4 gene(s)	inside rSNPs	diseases
3	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2757778	chr1:239766094-240389504	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv2759009	chr1:239766094-240389504	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv35011	chr1:239907420-240298959	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv2756891	chr1:239907420-240308147	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10802802	RBM34	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239889000-239949800	Weak transcription	Pancreas	Pancrea
2	chr1:239891200-239918400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:239903400-239911200	Weak transcription	Ovary	ovary
4	chr1:239906000-239923000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:239906200-239915800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr1:239908600-239915000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:239908800-239916600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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