Variant report

Variant	rs1966376
Chromosome Location	chr19:44202748-44202749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12976220	0.81[ASN][1000 genomes]
rs1468720	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56298463	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62114134	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73046624	0.82[EUR][1000 genomes]
rs740586	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8107296	0.85[AMR][1000 genomes];0.92[EUR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44191400-44203600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:44199400-44203400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr19:44200600-44204200	Weak transcription	A549	lung
4	chr19:44201000-44204600	Weak transcription	K562	blood
5	chr19:44201200-44204000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:44201800-44203400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:44202000-44203200	Weak transcription	Spleen	Spleen
8	chr19:44202000-44203600	Weak transcription	HepG2	liver
9	chr19:44202200-44203200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:44202200-44203200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:44202200-44203400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:44202400-44203600	Weak transcription	Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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