Variant report

Variant	rs2189369
Chromosome Location	chr4:7667690-7667691
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73794756	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7657400-7670400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:7659000-7680800	Weak transcription	Ovary	ovary
3	chr4:7660200-7669000	Weak transcription	Brain Anterior Caudate	brain
4	chr4:7660200-7669600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:7660600-7684400	Weak transcription	Brain Angular Gyrus	brain
6	chr4:7661600-7684200	Weak transcription	Brain Substantia Nigra	brain
7	chr4:7664800-7669400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:7665000-7669800	Weak transcription	HepG2	liver
9	chr4:7665200-7694800	Weak transcription	Liver	Liver
10	chr4:7665600-7670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr4:7666000-7668000	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:7666000-7670400	Strong transcription	Brain Cingulate Gyrus	brain
13	chr4:7666200-7669800	Strong transcription	Fetal Stomach	stomach
14	chr4:7666800-7672400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:7667400-7667800	Strong transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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