Variant report

Variant	rs11083716
Chromosome Location	chr19:44190662-44190663
allele	A/G
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]
rs11083715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11083718	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11668247	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11879184	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs346059	0.87[ASN][1000 genomes]
rs346062	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.82[AFR][1000 genomes];0.94[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	chr19:44180400-44191000	Weak transcription	Gastric	stomach
2	chr19:44180600-44194200	Weak transcription	Spleen	Spleen
3	chr19:44184000-44190800	Weak transcription	Hela-S3	cervix
4	chr19:44187600-44192000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:44187800-44190800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:44187800-44191000	Weak transcription	A549	lung
7	chr19:44188000-44190800	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr19:44188400-44191000	Weak transcription	Stomach Mucosa	stomach
9	chr19:44189000-44191600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr19:44189000-44191600	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr19:44189400-44191200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr19:44190400-44192400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:44190400-44192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:44190600-44191000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:44190600-44192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:44190600-44192200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr19:44190600-44192200	Enhancers	NHEK	skin

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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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