Variant report

Variant	rs60389767
Chromosome Location	chr7:20008511-20008512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:20008347-20008589	IMR90	lung:	n/a	chr7:20008461-20008472
2	CEBPB	chr7:20008376-20008606	HepG2	liver:	n/a	chr7:20008461-20008472
3	CEBPB	chr7:20008416-20008876	A549	lung:	n/a	chr7:20008461-20008472

Variant related genes	Relation type
ENSG00000243004	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs55733725	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55887134	1.00[AFR][1000 genomes]
rs56112614	1.00[AFR][1000 genomes]
rs56252872	1.00[AFR][1000 genomes]
rs57287675	1.00[AFR][1000 genomes]
rs57469109	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58756991	0.93[AFR][1000 genomes]
rs59686194	1.00[AFR][1000 genomes]
rs60993179	1.00[AFR][1000 genomes]
rs6963155	0.83[AMR][1000 genomes]
rs73684911	1.00[AFR][1000 genomes]
rs73684912	1.00[AFR][1000 genomes]
rs73684913	1.00[AFR][1000 genomes]
rs73684915	1.00[AFR][1000 genomes]
rs73684916	1.00[AFR][1000 genomes]
rs73684918	1.00[AFR][1000 genomes]
rs73684920	1.00[AFR][1000 genomes]
rs73684922	1.00[AFR][1000 genomes]
rs73684925	1.00[AFR][1000 genomes]
rs73684927	1.00[AFR][1000 genomes]
rs73684929	1.00[AMR][1000 genomes]
rs73684931	1.00[AMR][1000 genomes]
rs73684932	1.00[AMR][1000 genomes]
rs73684933	1.00[AFR][1000 genomes]
rs73684935	1.00[AMR][1000 genomes]
rs73684937	0.86[AFR][1000 genomes]
rs73684938	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684939	1.00[AFR][1000 genomes]
rs73684941	1.00[AFR][1000 genomes]
rs73684947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73684950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9791390	1.00[AMR][1000 genomes]
rs9791790	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018601	chr7:19272360-20008881	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1033223	chr7:19682192-20461375	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv538795	chr7:19682192-20461375	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv887826	chr7:19816240-20033899	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1027445	chr7:19947297-20211733	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv887830	chr7:19970584-20114589	Enhancers Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1027849	chr7:20003094-20084998	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:19991800-20010000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:19998400-20009800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:19999400-20009600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:19999600-20023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:20001400-20009600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:20001400-20009800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:20004400-20009800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:20004400-20009800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:20004400-20009800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:20004600-20009200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:20004600-20009200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:20005000-20009800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:20007200-20010400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:20007600-20009600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:20007800-20024000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:20008000-20010000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr7:20008000-20017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:20008200-20008800	Enhancers	A549	lung

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