Variant report

Variant	rs346048
Chromosome Location	chr19:44224161-44224162
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11555891	0.82[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs34439296	0.80[EUR][1000 genomes]
rs346049	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs55795943	0.89[ASN][1000 genomes]
rs73048604	0.98[ASN][1000 genomes]
rs73048606	0.91[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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44218200-44232600	Weak transcription	A549	lung
2	chr19:44219600-44231600	Weak transcription	Fetal Intestine Small	intestine
3	chr19:44220400-44240400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:44222200-44224400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr19:44222800-44232800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr19:44223400-44224200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:44223800-44224400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:44223800-44224400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:44223800-44224400	Enhancers	Hela-S3	cervix
10	chr19:44223800-44225000	Weak transcription	Spleen	Spleen
11	chr19:44223800-44225400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:44223800-44232200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr19:44224000-44224200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr19:44224000-44224200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:44224000-44231400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:44224000-44231400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:44224000-44232800	Weak transcription	Esophagus	oesophagus

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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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