Variant report

Variant	rs334045
Chromosome Location	chr2:179102749-179102750
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	chr2:179057585..179060105-chr2:179100969..179103319,3	K562	blood:

Variant related genes	Relation type
ENSG00000079156	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10174910	0.82[YRI][hapmap]
rs10197166	0.86[JPT][hapmap]
rs10205083	0.86[YRI][hapmap]
rs11887212	0.89[ASN][1000 genomes]
rs11902232	0.80[AFR][1000 genomes]
rs13403689	0.84[CHD][hapmap]
rs13425013	0.82[YRI][hapmap]
rs170791	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs186736	0.86[JPT][hapmap]
rs2366157	0.84[CHD][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap]
rs333996	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs333999	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334002	0.81[JPT][hapmap]
rs334005	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.89[ASN][1000 genomes]
rs334006	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs334007	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs334010	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334011	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334013	0.81[JPT][hapmap]
rs334014	0.81[JPT][hapmap]
rs334017	0.87[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs334035	0.86[JPT][hapmap]
rs334037	0.80[JPT][hapmap]
rs334040	0.94[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs334041	0.91[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.81[EUR][1000 genomes]
rs334042	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs334043	0.91[CEU][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes]
rs334044	0.91[CEU][hapmap];0.81[GIH][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs334102	0.93[JPT][hapmap]
rs334103	0.93[JPT][hapmap]
rs334110	0.93[JPT][hapmap]
rs6433715	0.93[YRI][hapmap]
rs6719178	0.84[CHD][hapmap];0.86[JPT][hapmap]
rs7581504	0.84[CHB][hapmap];0.84[CHD][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap]
rs9989738	0.81[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1011423	chr2:179084407-179166160	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs334045	FKBP7	cis	parietal	SCAN
rs334045	LOC100130691	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179091000-179106400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:179091200-179115000	Weak transcription	Aorta	Aorta
3	chr2:179098400-179103000	Weak transcription	A549	lung
4	chr2:179098600-179106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:179099400-179104200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:179099800-179102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:179101000-179103800	Enhancers	Hela-S3	cervix
8	chr2:179101000-179115400	Weak transcription	Gastric	stomach
9	chr2:179101200-179102800	Weak transcription	HMEC	breast
10	chr2:179101200-179104200	Enhancers	Psoas Muscle	Psoas
11	chr2:179101200-179104200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr2:179101400-179107000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:179101800-179106600	Weak transcription	Right Atrium	heart
14	chr2:179102200-179103600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:179102400-179103200	Enhancers	NHEK	skin
16	chr2:179102400-179103400	Enhancers	Osteobl	bone
17	chr2:179102400-179103600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:179102400-179103600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:179102400-179103600	Enhancers	K562	blood
20	chr2:179102400-179103600	Enhancers	NH-A	brain
21	chr2:179102400-179103600	Enhancers	NHDF-Ad	bronchial
22	chr2:179102400-179104200	Enhancers	Left Ventricle	heart
23	chr2:179102600-179103200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:179102600-179103400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:179102600-179103600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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