Variant report

Variant	rs11671478
Chromosome Location	chr19:51206695-51206696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10403329	1.00[CHB][hapmap]
rs10406287	1.00[CHB][hapmap]
rs10406403	1.00[CHB][hapmap]
rs10406640	1.00[CHB][hapmap]
rs10406721	1.00[CHB][hapmap]
rs10415064	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10417605	1.00[CHB][hapmap]
rs10420039	1.00[CHB][hapmap]
rs12104176	1.00[CHB][hapmap]
rs12104311	1.00[CHB][hapmap]
rs3212845	1.00[CHB][hapmap]
rs73586870	1.00[ASN][1000 genomes]
rs73586871	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv1062281	chr19:51053340-51230844	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1062548	chr19:51081358-51230844	Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv828583	chr19:51140752-51249837	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv912285	chr19:51141486-51236834	Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv912286	chr19:51159189-51209949	Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr19:51199000-51221400	Weak transcription	Right Atrium	heart
2	chr19:51199800-51213800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:51200000-51213400	Weak transcription	Fetal Brain Male	brain
4	chr19:51200200-51211800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:51205200-51207600	Strong transcription	Brain Germinal Matrix	brain
6	chr19:51205400-51207600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:51205400-51207600	Enhancers	HUVEC	blood vessel
8	chr19:51205600-51206800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:51205600-51206800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:51205600-51207600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr19:51206000-51207800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:51206000-51208000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:51206400-51206800	Strong transcription	Fetal Brain Female	brain
14	chr19:51206600-51213000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr19:51206600-51220800	Weak transcription	Osteobl	bone

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dbSNP/dbVar ID: rs12345 /nsv7879
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