Variant report

Variant	rs72993528
Chromosome Location	chr11:108739199-108739200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1469274	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108759	0.91[ASN][1000 genomes]
rs17703817	0.96[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1820403	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2553769	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2615734	1.00[ASN][1000 genomes]
rs2726905	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2726924	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59287866	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7103209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7114472	0.83[AFR][1000 genomes]
rs7129535	0.96[AFR][1000 genomes]
rs71489923	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72993315	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72993517	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72993554	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944806	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7946592	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108707600-108740800	Weak transcription	HMEC	breast
2	chr11:108721600-108742200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:108725000-108739600	Weak transcription	A549	lung
4	chr11:108725000-108740000	Weak transcription	NHDF-Ad	bronchial
5	chr11:108725000-108741000	Weak transcription	HSMMtube	muscle
6	chr11:108725000-108741400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:108725400-108740600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:108725400-108740800	Weak transcription	NHEK	skin
9	chr11:108725400-108741000	Weak transcription	Brain Angular Gyrus	brain
10	chr11:108725800-108740000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:108726200-108740400	Weak transcription	Primary B cells from cord blood	blood
12	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
14	chr11:108728600-108741000	Weak transcription	Primary T cells from cord blood	blood
15	chr11:108730000-108740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:108734600-108753200	Weak transcription	GM12878-XiMat	blood
17	chr11:108734800-108743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:108735800-108741200	Weak transcription	Fetal Heart	heart
19	chr11:108736000-108741000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:108736000-108741800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:108736200-108739600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:108736400-108739400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:108736400-108740600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:108736600-108739800	Weak transcription	Osteobl	bone
25	chr11:108736600-108740400	Weak transcription	NH-A	brain
26	chr11:108737600-108739400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:108738000-108739600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:108738800-108740400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:108739000-108740600	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr11:108739000-108744000	Enhancers	HUES64 Cell Line	embryonic stem cell

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