Variant report

Variant	rs1456101
Chromosome Location	chr3:157177118-157177119
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	chr3:157175083..157179044-chr3:157180593..157185169,5	K562	blood:
2	chr3:157176898..157178471-chr3:157180465..157182221,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1009873	0.96[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11709669	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1378800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1456100	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1456102	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17391399	0.87[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17470517	0.82[CHB][hapmap]
rs1824056	0.82[CHB][hapmap]
rs1838143	0.84[CEU][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4679795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4680370	0.82[CHB][hapmap]
rs6794511	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9815250	0.82[CHB][hapmap]
rs9841781	0.82[CHB][hapmap]
rs9859018	0.82[CHB][hapmap]
rs9873474	0.82[CHB][hapmap];0.80[CHD][hapmap]
rs9877620	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1456101	C3orf55	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157159000-157177400	Weak transcription	NH-A	brain
2	chr3:157160400-157195000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr3:157161200-157186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:157164600-157185400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:157165200-157177200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr3:157170200-157187000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:157172400-157177400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:157174400-157177600	Strong transcription	Osteobl	bone
9	chr3:157175000-157177200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr3:157175200-157177200	Strong transcription	HUVEC	blood vessel
11	chr3:157175400-157181200	Weak transcription	Lung	lung
12	chr3:157175800-157178200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:157176800-157177200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:157176800-157177200	ZNF genes & repeats	Pancreas	Pancrea
15	chr3:157176800-157177400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:157176800-157177400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:157176800-157177600	Enhancers	NHDF-Ad	bronchial
18	chr3:157176800-157178800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:157177000-157177200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:157177000-157177400	Enhancers	NHLF	lung
21	chr3:157177000-157177600	Genic enhancers	HSMM	muscle

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