Variant report

Variant	rs12074980
Chromosome Location	chr1:184636516-184636517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10797983	1.00[AFR][1000 genomes]
rs10911626	1.00[AFR][1000 genomes]
rs2273851	1.00[AFR][1000 genomes]
rs3795407	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs6660367	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv947339	chr1:184618714-184641256	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	1 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	chr1:184633600-184638400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:184634000-184638400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:184634200-184637000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:184634200-184637000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:184634400-184638200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:184634600-184637600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:184634800-184636600	Weak transcription	Fetal Lung	lung
8	chr1:184634800-184641000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:184635000-184637000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:184635000-184637000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:184635400-184637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:184636200-184637200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:184636200-184639000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:184636400-184639000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:184636400-184643200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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