Variant report

Variant	rs4670169
Chromosome Location	chr2:37023044-37023045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10200515	0.83[ASN][1000 genomes]
rs10200548	0.93[CHB][hapmap];0.84[ASN][1000 genomes]
rs11124544	0.93[EUR][1000 genomes]
rs11124547	0.86[CHB][hapmap]
rs11124548	0.88[ASN][1000 genomes]
rs11675969	0.88[CEU][hapmap]
rs11677279	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11892193	0.93[CHB][hapmap];0.85[ASN][1000 genomes]
rs11901202	0.85[CHB][hapmap]
rs11902881	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs12618670	0.80[ASN][1000 genomes]
rs12987048	0.88[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs13003338	0.87[ASN][1000 genomes]
rs13009450	0.87[ASN][1000 genomes]
rs13417089	0.93[CHB][hapmap];0.83[ASN][1000 genomes]
rs13417363	0.83[ASN][1000 genomes]
rs1558701	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs17019851	0.88[JPT][hapmap]
rs17019854	0.84[CHD][hapmap];0.88[JPT][hapmap]
rs2041809	0.85[CHB][hapmap];0.90[CHD][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.88[MKK][hapmap];0.82[TSI][hapmap];0.88[AMR][1000 genomes]
rs2058683	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2072525	0.86[CHB][hapmap]
rs2072527	0.93[CHD][hapmap];1.00[JPT][hapmap]
rs2276669	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821147	0.88[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes]
rs4670170	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4670172	0.82[ASN][1000 genomes]
rs4670612	0.92[EUR][1000 genomes]
rs4670613	0.94[EUR][1000 genomes]
rs4670614	0.91[EUR][1000 genomes]
rs4670615	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4670620	0.89[ASN][1000 genomes]
rs4670627	0.84[ASN][1000 genomes]
rs56740767	0.95[ASN][1000 genomes]
rs57032858	0.81[ASN][1000 genomes]
rs6544039	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs72867902	0.80[ASN][1000 genomes]
rs7592382	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs759435	0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7606098	0.97[CHD][hapmap];1.00[JPT][hapmap]
rs763724	1.00[JPT][hapmap]
rs879613	0.89[JPT][hapmap]
rs879614	0.80[CEU][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap]
rs929640	0.88[JPT][hapmap]

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv2682	chr2:37015550-37060432	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4670169	C2orf58	cis	cerebellum	SCAN
rs4670169	EIF2AK2	cis	cerebellum	SCAN
rs4670169	EIF2AK2	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37012800-37024800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:37013000-37033000	Weak transcription	Ovary	ovary
3	chr2:37013200-37024400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr2:37016800-37024600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr2:37019200-37024600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:37020400-37024400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:37020600-37023800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr2:37021400-37024600	Weak transcription	Fetal Thymus	thymus
9	chr2:37022200-37027600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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