Variant report

Variant	rs11994780
Chromosome Location	chr8:61240727-61240728
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55983178	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56046142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56051189	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57466491	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60141613	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683106	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73683108	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61238200-61242200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:61238600-61242400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:61239400-61241000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:61239600-61241000	Weak transcription	K562	blood
5	chr8:61240000-61245200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr8:61240400-61241800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr8:61240600-61241200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr8:61240600-61242200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr8:61240600-61242200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:61240600-61242200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:61240600-61242800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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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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