Variant report

Variant	rs1847215
Chromosome Location	chr4:78914305-78914306
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	chr4:78913096..78915245-chr4:78935885..78937796,2	K562	blood:
2	chr4:78909839..78911739-chr4:78914254..78917095,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248640	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1039467	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs10856991	0.91[ASN][1000 genomes]
rs11097980	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11732039	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11734428	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11937191	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12507708	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12650649	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1502879	0.97[ASN][1000 genomes]
rs1502880	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1553386	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1847216	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1910304	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2036458	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2102190	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2134459	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2174078	0.83[ASN][1000 genomes]
rs2174079	0.95[ASN][1000 genomes]
rs35896758	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4331798	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4473672	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4859515	0.93[ASN][1000 genomes]
rs4859894	0.93[ASN][1000 genomes]
rs4859896	0.93[ASN][1000 genomes]
rs4859897	0.93[ASN][1000 genomes]
rs4859898	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4859899	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859900	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4859901	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57221952	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs58054752	0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6533358	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533359	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6533374	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6533376	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6533382	0.90[ASN][1000 genomes]
rs6830993	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs6850590	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6851286	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6857479	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73827456	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73827459	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs73827460	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7671432	0.93[ASN][1000 genomes]
rs7699987	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs950263	0.93[ASN][1000 genomes]
rs950264	0.93[ASN][1000 genomes]
rs9991424	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752050	chr4:78693311-78975321	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1010714	chr4:78742505-78991030	Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv516836	chr4:78748977-78981919	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv594704	chr4:78748977-78981919	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv461562	chr4:78757015-78981919	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv461563	chr4:78757015-78981919	Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv594705	chr4:78757015-78981919	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1008217	chr4:78777531-78957311	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv537145	chr4:78777531-78957311	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
11	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
12	nsv1004772	chr4:78906866-78976561	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1847215	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78911400-78915200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:78912400-78915000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr4:78912400-78915200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:78912400-78915200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:78912600-78915000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:78912600-78915000	Weak transcription	HepG2	liver
7	chr4:78912800-78915200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:78913000-78915200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:78913000-78915200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr4:78913200-78915200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:78913400-78915200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:78913400-78915200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr4:78913400-78915400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:78913800-78915200	Weak transcription	Fetal Lung	lung
15	chr4:78913800-78915400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:78914000-78915200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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