Variant report

Variant	rs12976220
Chromosome Location	chr19:44192580-44192581
allele	C/T
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:5)

rs_ID	r²[population]
rs1468720	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1966376	0.81[ASN][1000 genomes]
rs56298463	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62114134	0.83[ASN][1000 genomes]
rs740586	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44180600-44194200	Weak transcription	Spleen	Spleen
2	chr19:44190400-44192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr19:44191000-44192600	Enhancers	Stomach Mucosa	stomach
4	chr19:44191000-44193000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:44191200-44192600	Enhancers	Brain Anterior Caudate	brain
6	chr19:44191200-44194000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:44191400-44192600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr19:44191400-44203600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:44191600-44192600	Enhancers	Brain Angular Gyrus	brain
10	chr19:44191600-44195600	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr19:44191600-44196600	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr19:44191800-44192600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:44192000-44192800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:44192200-44192600	Enhancers	Hela-S3	cervix
15	chr19:44192200-44194400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:44192200-44197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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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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