Variant report

Variant	rs72994754
Chromosome Location	chr11:108906147-108906148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108905168..108907464-chr11:108909151..108912288,3	K562	blood:
2	chr11:108905323..108906917-chr11:108910788..108913428,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11600306	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604258	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58200195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60268023	1.00[ASN][1000 genomes]
rs61344275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72994736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72996736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72996743	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73010563	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73010594	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040650	chr11:108859584-109174553	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv898390	chr11:108893765-109003536	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1815918	chr11:108900487-108948487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108901000-108908800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:108904600-108906400	Enhancers	HUVEC	blood vessel
3	chr11:108905000-108906600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr11:108905400-108907400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:108905400-108907600	Enhancers	NH-A	brain
6	chr11:108905400-108907600	Enhancers	Osteobl	bone
7	chr11:108905400-108908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:108905400-108908800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:108905400-108908800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr11:108905400-108909200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:108905400-108909400	Weak transcription	NHDF-Ad	bronchial
12	chr11:108905600-108907000	Weak transcription	NHEK	skin
13	chr11:108905600-108907200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:108905600-108908600	Weak transcription	HMEC	breast
15	chr11:108905600-108908800	Weak transcription	HSMM	muscle
16	chr11:108905600-108909000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:108905800-108907000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:108905800-108907400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:108905800-108907400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr11:108906000-108906400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:108906000-108907200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:108906000-108907400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr11:108906000-108908600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr11:108906000-108908600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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