Variant report

Variant	rs4235149
Chromosome Location	chr4:47470870-47470871
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	chr4:47465829..47468286-chr4:47470252..47472768,2	K562	blood:
2	chr4:47468877..47471001-chr4:47471871..47473913,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10938485	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10938486	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11729677	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12645143	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103660	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115740	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13129226	0.96[EUR][1000 genomes]
rs13140559	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860200	1.00[CEU][hapmap]
rs17600665	0.81[CEU][hapmap]
rs17653595	0.81[CEU][hapmap]
rs28409227	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572263	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588386	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589873	0.83[EUR][1000 genomes]
rs34022241	0.82[EUR][1000 genomes]
rs34096542	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35143328	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197130	0.96[EUR][1000 genomes]
rs35293354	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35796318	0.82[EUR][1000 genomes]
rs4070	0.96[EUR][1000 genomes]
rs4235150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349580	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4510445	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4532215	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4585276	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694849	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4695233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695234	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59268722	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6447553	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6447554	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843791	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs71611998	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7690580	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs9993271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9998984	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4235149	CORIN	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47466000-47473200	Weak transcription	Placenta	Placenta
2	chr4:47466000-47475400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:47466200-47471000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:47466200-47471000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:47466200-47471600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr4:47466200-47473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:47467800-47474000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:47470400-47473400	Enhancers	Osteobl	bone
9	chr4:47470600-47471200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:47470800-47471200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:47470800-47471200	Flanking Active TSS	Fetal Heart	heart
12	chr4:47470800-47471400	Enhancers	Fetal Lung	lung
13	chr4:47470800-47472800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:47470800-47472800	Enhancers	NH-A	brain

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