Variant report

Variant	rs13058814
Chromosome Location	chr3:60062636-60062637
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11718208	0.84[CHB][hapmap]
rs11718957	0.84[CHB][hapmap]
rs11927585	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13066837	0.84[CHB][hapmap]
rs13069706	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13070338	0.82[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13075738	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs17322850	0.84[CHB][hapmap]
rs17325451	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs212045	0.85[YRI][hapmap]
rs2630148	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2630166	0.84[JPT][hapmap]
rs2736781	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2736782	0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2736787	0.91[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs3843360	0.84[CHB][hapmap];0.87[CHD][hapmap]
rs3856670	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[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	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	nsv520108	chr3:60059041-60062939	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv523496	chr3:60059041-60064296	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv524597	chr3:60062636-60062654	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13058814	FEZF2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60051800-60063000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:60059800-60064800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr3:60061000-60064000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr3:60061400-60062800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr3:60061400-60063400	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr3:60061600-60062800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr3:60061600-60063000	Enhancers	Primary B cells from cord blood	blood
8	chr3:60061600-60063200	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr3:60061800-60063000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr3:60061800-60064200	Weak transcription	Fetal Thymus	thymus
11	chr3:60061800-60066400	Weak transcription	Brain Substantia Nigra	brain
12	chr3:60061800-60068400	Flanking Active TSS	Dnd41	blood
13	chr3:60062200-60063200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr3:60062400-60062800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr3:60062400-60063000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr3:60062400-60063200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr3:60062400-60064600	Weak transcription	Thymus	Thymus
18	chr3:60062400-60065200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr3:60062400-60066200	Weak transcription	Stomach Mucosa	stomach
20	chr3:60062400-60066400	Weak transcription	Brain Anterior Caudate	brain
21	chr3:60062400-60066400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr3:60062600-60062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:60062600-60063600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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