Variant report

Variant	rs1561230
Chromosome Location	chr2:100746642-100746643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100740146..100742521-chr2:100744852..100747122,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10211595	0.88[CEU][hapmap]
rs10496344	0.82[MEX][hapmap]
rs11123810	0.82[MEX][hapmap]
rs11123811	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11681966	0.82[MEX][hapmap]
rs11690905	0.82[MEX][hapmap]
rs11694875	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11885529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12712065	0.92[CEU][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13003982	0.82[MEX][hapmap]
rs2118280	1.00[ASN][1000 genomes]
rs2164712	0.96[ASN][1000 genomes]
rs2309752	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6749757	0.86[EUR][1000 genomes]
rs7565967	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7575877	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608424	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv458707	chr2:100687778-100753490	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv582529	chr2:100687778-100753490	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv582530	chr2:100739970-100774287	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1561230	ANKRD23	cis	cerebellum	SCAN
rs1561230	DUSP2	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100732000-100749400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:100732000-100754400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:100734400-100748000	Weak transcription	Adipose Nuclei	Adipose
4	chr2:100736800-100747400	Strong transcription	Primary B cells from cord blood	blood
5	chr2:100741400-100747000	Strong transcription	Primary T cells from cord blood	blood
6	chr2:100742200-100747200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr2:100742400-100747200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:100742400-100753600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:100742400-100754000	Weak transcription	Gastric	stomach
10	chr2:100742800-100754000	Weak transcription	Lung	lung
11	chr2:100743200-100751400	Weak transcription	Fetal Thymus	thymus
12	chr2:100744200-100751400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:100745000-100747000	Strong transcription	Thymus	Thymus
14	chr2:100745200-100750200	Genic enhancers	Primary B cells from peripheral blood	blood
15	chr2:100745400-100751200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:100745800-100746800	Enhancers	Fetal Brain Male	brain
17	chr2:100745800-100751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:100746000-100746800	Enhancers	Fetal Brain Female	brain
19	chr2:100746000-100751400	Weak transcription	Dnd41	blood
20	chr2:100746200-100764800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:100746400-100747000	Active TSS	Spleen	Spleen
22	chr2:100746600-100747200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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