Variant report

Variant	rs551368
Chromosome Location	chr2:179103588-179103589
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179103455..179105342-chr2:179107240..179109495,2	K562	blood:
2	chr2:179084247..179086331-chr2:179102848..179105496,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs101266	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10203420	0.81[EUR][1000 genomes]
rs10930827	0.81[JPT][hapmap]
rs12185670	0.88[JPT][hapmap]
rs12469658	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12474257	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12476671	0.95[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13400415	1.00[YRI][hapmap]
rs147180	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs333992	0.94[JPT][hapmap]
rs333993	0.94[JPT][hapmap]
rs333995	0.93[JPT][hapmap]
rs333997	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333998	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334000	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334001	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334002	0.88[JPT][hapmap]
rs334004	0.92[AFR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334009	0.89[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334013	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334014	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs334024	0.81[JPT][hapmap]
rs334028	0.80[JPT][hapmap]
rs334037	0.88[JPT][hapmap]
rs7419749	0.86[ASW][hapmap];0.81[JPT][hapmap]
rs7599683	0.82[JPT][hapmap]
rs9288016	0.84[EUR][1000 genomes]
rs9989738	1.00[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]

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
rs551368	LOC100130691	cis	cerebellum	SCAN
rs551368	LOC100128288	trans	parietal	SCAN

Chromatin state (count:29 , 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	chr2:179098600-179106600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:179099400-179104200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:179101000-179103800	Enhancers	Hela-S3	cervix
6	chr2:179101000-179115400	Weak transcription	Gastric	stomach
7	chr2:179101200-179104200	Enhancers	Psoas Muscle	Psoas
8	chr2:179101200-179104200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr2:179101400-179107000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:179101800-179106600	Weak transcription	Right Atrium	heart
11	chr2:179102200-179103600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:179102400-179103600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:179102400-179103600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:179102400-179103600	Enhancers	K562	blood
15	chr2:179102400-179103600	Enhancers	NH-A	brain
16	chr2:179102400-179103600	Enhancers	NHDF-Ad	bronchial
17	chr2:179102400-179104200	Enhancers	Left Ventricle	heart
18	chr2:179102600-179103600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:179102800-179103600	Enhancers	HMEC	breast
20	chr2:179103000-179103600	Enhancers	A549	lung
21	chr2:179103000-179104000	Enhancers	Fetal Heart	heart
22	chr2:179103200-179106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr2:179103200-179106600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:179103200-179106600	Weak transcription	HSMM	muscle
25	chr2:179103200-179106600	Weak transcription	NHEK	skin
26	chr2:179103200-179106600	Weak transcription	NHLF	lung
27	chr2:179103400-179104000	Enhancers	Liver	Liver
28	chr2:179103400-179106600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:179103400-179106600	Weak transcription	Osteobl	bone

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