Variant report

Variant	rs6533375
Chromosome Location	chr4:78915874-78915875
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:78909839..78911739-chr4:78914254..78917095,2	MCF-7	breast:
2	chr4:78915334..78916174-chr4:79437913..79438840,4	MCF-7	breast:
3	chr4:78915311..78916190-chr4:79437915..79438836,3	K562	blood:

Variant related genes	Relation type
ENSG00000248640	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10000964	1.00[ASN][1000 genomes]
rs10005124	1.00[ASN][1000 genomes]
rs10016866	1.00[ASN][1000 genomes]
rs10049574	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1502887	1.00[ASN][1000 genomes]
rs1910300	1.00[CEU][hapmap]
rs28367528	1.00[ASN][1000 genomes]
rs28520643	1.00[ASN][1000 genomes]
rs28546473	1.00[ASN][1000 genomes]
rs28723619	1.00[ASN][1000 genomes]
rs4340818	1.00[ASN][1000 genomes]
rs4859517	1.00[ASN][1000 genomes]
rs4859895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6842322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858745	1.00[ASN][1000 genomes]
rs7687049	1.00[ASN][1000 genomes]
rs9284616	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9284617	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9307331	1.00[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
rs6533375	CNOT6L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78915000-78916000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:78915000-78916000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:78915000-78916000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr4:78915200-78916000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:78915200-78916000	Enhancers	Fetal Kidney	kidney
6	chr4:78915200-78916000	Enhancers	Fetal Lung	lung
7	chr4:78915200-78916200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr4:78915200-78916200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:78915200-78916200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr4:78915200-78916200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr4:78915200-78916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr4:78915200-78916200	Enhancers	HSMMtube	muscle
13	chr4:78915200-78917000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:78915400-78916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:78915400-78916400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:78915400-78916400	Flanking Active TSS	HepG2	liver
17	chr4:78915400-78917200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:78915600-78916000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:78915600-78916000	Enhancers	Left Ventricle	heart
20	chr4:78915800-78916000	Enhancers	Lung	lung
21	chr4:78915800-78916200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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