Variant report

Variant	rs6592249
Chromosome Location	chr11:85242035-85242036
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12099352	1.00[AMR][1000 genomes]
rs17148332	1.00[AMR][1000 genomes]
rs17148370	1.00[AMR][1000 genomes]
rs17148398	1.00[AMR][1000 genomes]
rs3168151	1.00[AMR][1000 genomes]
rs4570600	1.00[AMR][1000 genomes]
rs55951903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56742402	0.90[AFR][1000 genomes]
rs59170492	1.00[AMR][1000 genomes]
rs6592261	1.00[AMR][1000 genomes]
rs7108539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7130354	0.84[AFR][1000 genomes]
rs73502601	1.00[AMR][1000 genomes]
rs7925210	0.95[AFR][1000 genomes]
rs7931532	1.00[AMR][1000 genomes]
rs7937460	1.00[AMR][1000 genomes]
rs7946536	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044370	chr11:84748993-85293233	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
4	nsv1050363	chr11:85163437-85293233	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541111	chr11:85163437-85293233	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv898046	chr11:85180409-85300458	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
9	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
10	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv976462	chr11:85227017-85253774	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv898049	chr11:85231475-85292310	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr11:85233600-85242600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr11:85234000-85247600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:85235200-85251000	Weak transcription	Psoas Muscle	Psoas
4	chr11:85235800-85245800	Weak transcription	Aorta	Aorta
5	chr11:85237200-85242400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:85238200-85242200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:85238400-85242200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:85238600-85242400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:85241400-85242800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:85241600-85242200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr11:85241600-85242800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:85241800-85242600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr11:85241800-85242800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr11:85242000-85242600	Weak transcription	Ovary	ovary
15	chr11:85242000-85242800	Enhancers	Fetal Lung	lung

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dbSNP/dbVar ID: rs12345 /nsv7879
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