Variant report

Variant	rs4689111
Chromosome Location	chr4:7384238-7384239
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	chr4:7383688..7386863-chr4:7391292..7393827,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12503904	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12647804	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3905844	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4367173	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1011547	chr4:7318232-7637410	Active TSS ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv537017	chr4:7318232-7637410	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1003679	chr4:7319111-7449262	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1012289	chr4:7361958-7395292	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv469758	chr4:7370083-7546250	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7380800-7385400	Enhancers	Brain Angular Gyrus	brain
2	chr4:7380800-7386000	Enhancers	Brain Cingulate Gyrus	brain
3	chr4:7380800-7386000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr4:7381000-7385000	Enhancers	Brain Anterior Caudate	brain
5	chr4:7381000-7387800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:7381200-7385200	Enhancers	Brain Substantia Nigra	brain
7	chr4:7381400-7385200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr4:7381600-7385400	Enhancers	Brain Hippocampus Middle	brain
9	chr4:7382800-7384600	Enhancers	Ovary	ovary
10	chr4:7383200-7385800	Enhancers	Brain Germinal Matrix	brain
11	chr4:7383400-7384400	Weak transcription	Fetal Brain Male	brain
12	chr4:7383400-7385000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:7383400-7385400	Enhancers	Fetal Muscle Leg	muscle
14	chr4:7383400-7393600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:7383800-7384800	Weak transcription	Fetal Heart	heart
16	chr4:7383800-7387400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7384000-7384800	Weak transcription	HSMMtube	muscle
18	chr4:7384000-7385000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:7384000-7385400	Enhancers	Fetal Brain Female	brain
20	chr4:7384000-7385400	Enhancers	Fetal Stomach	stomach
21	chr4:7384000-7387200	Weak transcription	Right Ventricle	heart
22	chr4:7384200-7399600	Weak transcription	Right Atrium	heart

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