Variant report

Variant	rs4689844
Chromosome Location	chr4:7730300-7730301
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	chr4:7729339..7732092-chr4:7733830..7736554,3	K562	blood:

Variant related genes	Relation type
ENSG00000184985	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12507674	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16840950	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2285773	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285775	0.88[ASN][1000 genomes]
rs3944126	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4689157	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689845	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4689846	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73794747	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73794751	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73794752	0.85[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	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
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv878572	chr4:7693469-7730392	Enhancers Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv878573	chr4:7698316-7730392	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv878574	chr4:7715181-7751894	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv878575	chr4:7715181-7767755	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
12	nsv878576	chr4:7720919-7746820	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7717800-7739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr4:7722600-7739200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr4:7724800-7744600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7725200-7734000	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:7726600-7757200	Weak transcription	Fetal Brain Female	brain
6	chr4:7726800-7732800	Strong transcription	Fetal Stomach	stomach
7	chr4:7726800-7733000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:7727000-7739400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr4:7728000-7730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:7728000-7731200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:7728600-7732600	Strong transcription	Brain Anterior Caudate	brain
12	chr4:7728600-7733000	Strong transcription	Brain Inferior Temporal Lobe	brain
13	chr4:7728600-7735000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr4:7729000-7730600	Strong transcription	Brain Angular Gyrus	brain
15	chr4:7729000-7735400	Strong transcription	Brain Cingulate Gyrus	brain
16	chr4:7729200-7731800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:7729600-7731400	Weak transcription	NH-A	brain
18	chr4:7730000-7731400	Weak transcription	Ovary	ovary
19	chr4:7730000-7733800	Weak transcription	Brain Substantia Nigra	brain
20	chr4:7730200-7731400	Strong transcription	Brain Germinal Matrix	brain

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