Variant report

Variant	rs212036
Chromosome Location	chr3:60039223-60039224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11925432	0.82[ASN][1000 genomes]
rs13060068	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17061972	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[ASN][1000 genomes]
rs17257269	1.00[CHB][hapmap]
rs212001	1.00[JPT][hapmap]
rs212010	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs212037	1.00[JPT][hapmap]
rs212038	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs212039	1.00[JPT][hapmap]
rs212040	1.00[JPT][hapmap]
rs212041	1.00[JPT][hapmap]
rs2366953	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2630165	1.00[CHB][hapmap]
rs2630182	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2630205	1.00[CHB][hapmap]
rs2736763	1.00[CHB][hapmap]
rs34267930	0.82[ASN][1000 genomes]
rs3845974	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4679629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4679631	1.00[CHB][hapmap]
rs57439204	0.82[ASN][1000 genomes]
rs6446109	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6446110	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs67136973	0.82[ASN][1000 genomes]
rs6773600	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6782148	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6797474	1.00[CHB][hapmap]
rs969562	1.00[CHD][hapmap]
rs986651	1.00[CHB][hapmap]

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	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv834707	chr3:60005679-60184046	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv876839	chr3:60024084-60039488	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs212036	ACOX2	cis	parietal	SCAN
rs212036	DUSP7	trans	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60034600-60044400	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr3:60034800-60041400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:60035000-60041200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr3:60035000-60043200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr3:60035000-60043200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr3:60035400-60041400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr3:60036800-60041200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:60037200-60039400	Weak transcription	Fetal Thymus	thymus
9	chr3:60037200-60040800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr3:60037800-60039600	Genic enhancers	Dnd41	blood
11	chr3:60038000-60042800	Enhancers	Thymus	Thymus
12	chr3:60038200-60042800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr3:60038200-60043600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr3:60038600-60043000	Enhancers	Primary T cells from cord blood	blood
15	chr3:60038800-60039600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:60038800-60041000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:60039000-60039400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:60039000-60039400	Enhancers	NH-A	brain
19	chr3:60039000-60039600	Enhancers	NHEK	skin
20	chr3:60039000-60039800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:60039200-60039400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr3:60039200-60039400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:60039200-60039600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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