Variant report

Variant	rs1367225
Chromosome Location	chr2:56032552-56032553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:56021572..56023348-chr2:56031352..56033297,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10496051	0.82[AMR][1000 genomes]
rs11125602	0.80[AMR][1000 genomes]
rs11125606	0.86[AMR][1000 genomes]
rs11125607	0.81[ASN][1000 genomes]
rs11125608	0.81[ASN][1000 genomes]
rs12464737	0.83[AMR][1000 genomes]
rs12478566	0.95[ASN][1000 genomes]
rs12615158	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1344732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1346781	0.93[ASN][1000 genomes]
rs1346783	0.95[ASN][1000 genomes]
rs1346787	0.81[ASN][1000 genomes]
rs1346790	0.85[ASN][1000 genomes]
rs1367226	0.81[ASN][1000 genomes]
rs1367228	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1430189	0.96[ASN][1000 genomes]
rs1430190	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1430191	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1430203	0.88[ASN][1000 genomes]
rs17369648	0.85[AMR][1000 genomes]
rs1897114	0.85[ASN][1000 genomes]
rs1946545	0.83[AMR][1000 genomes]
rs1960050	0.90[ASN][1000 genomes]
rs1985160	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985162	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985163	0.82[AMR][1000 genomes]
rs2052933	0.96[ASN][1000 genomes]
rs2115876	0.91[ASN][1000 genomes]
rs2115878	0.91[ASN][1000 genomes]
rs3791675	0.80[MEX][hapmap]
rs3791676	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs3791679	0.80[MEX][hapmap]
rs4146921	0.80[AMR][1000 genomes]
rs4146922	0.80[AMR][1000 genomes]
rs4347871	0.80[AMR][1000 genomes]
rs4352264	0.83[ASN][1000 genomes]
rs4672074	0.95[ASN][1000 genomes]
rs4672075	0.88[ASN][1000 genomes]
rs58027672	0.80[AMR][1000 genomes]
rs62164463	0.80[AMR][1000 genomes]
rs6545523	0.91[ASN][1000 genomes]
rs6545526	0.88[ASN][1000 genomes]
rs6545527	0.81[ASN][1000 genomes]
rs6708796	0.91[ASN][1000 genomes]
rs6712017	0.96[ASN][1000 genomes]
rs6714513	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6724369	0.83[AMR][1000 genomes]
rs6733730	0.88[ASN][1000 genomes]
rs6743114	0.81[ASN][1000 genomes]
rs6749785	0.91[ASN][1000 genomes]
rs6751403	0.90[ASN][1000 genomes]
rs6753814	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6757057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs732132	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7426380	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs7560657	0.83[AMR][1000 genomes]
rs7572523	0.91[ASN][1000 genomes]
rs7574127	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7609520	0.88[ASN][1000 genomes]
rs934278	0.85[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1367225	ASB3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:56029600-56037000	Weak transcription	Hela-S3	cervix
2	chr2:56029800-56032600	Weak transcription	Fetal Brain Female	brain
3	chr2:56030600-56034000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:56031000-56033000	Enhancers	Adipose Nuclei	Adipose
5	chr2:56031200-56033600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:56031600-56033200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:56031600-56033200	Enhancers	Fetal Brain Male	brain
8	chr2:56031800-56033000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:56031800-56033000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:56031800-56033200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:56032000-56033600	Enhancers	Aorta	Aorta
12	chr2:56032000-56033600	Enhancers	Brain Anterior Caudate	brain
13	chr2:56032000-56036800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:56032000-56036800	Weak transcription	A549	lung
15	chr2:56032000-56039800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:56032200-56032600	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:56032200-56033000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:56032200-56033600	Enhancers	Brain Substantia Nigra	brain
19	chr2:56032200-56036800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:56032200-56036800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:56032200-56036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:56032400-56032800	Weak transcription	Brain Germinal Matrix	brain

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