Variant report

Variant	rs72953987
Chromosome Location	chr11:85252172-85252173
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs72953913	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953914	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953916	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953921	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953926	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953932	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953934	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953938	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72953967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72953977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72953982	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72953991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72955912	0.93[ASN][1000 genomes]
rs72955918	0.93[ASN][1000 genomes]
rs72955939	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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
13	nsv518780	chr11:85245772-85266793	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85248800-85252600	Weak transcription	Pancreas	Pancrea
2	chr11:85248800-85292000	Weak transcription	Aorta	Aorta
3	chr11:85250000-85252200	Enhancers	Fetal Muscle Leg	muscle
4	chr11:85250400-85253800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:85250600-85253000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:85250800-85253600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:85250800-85253600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr11:85251000-85252200	Enhancers	Ovary	ovary
9	chr11:85251000-85252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr11:85251000-85253400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:85251000-85253600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:85251000-85253800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr11:85251200-85253800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:85251200-85254000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:85251400-85253000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:85251600-85252200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:85251600-85253400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:85251600-85259400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:85251600-85260200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:85251800-85253000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:85252000-85253000	Weak transcription	Brain Germinal Matrix	brain

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