Variant report

Variant	rs72928854
Chromosome Location	chr11:65746818-65746819
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65742158..65748813-chr11:65749011..65756801,11	MCF-7	breast:
2	chr1:156717397..156719936-chr11:65746740..65749009,2	MCF-7	breast:
3	chr11:65745204..65747160-chr11:65768458..65770932,2	MCF-7	breast:
4	chr11:65727573..65729443-chr11:65745539..65747244,2	MCF-7	breast:
5	chr11:65746618..65749014-chr11:65755089..65756613,2	K562	blood:
6	chr11:65746340..65748696-chr11:65818122..65820186,2	K562	blood:

Variant related genes	Relation type
ENSG00000175376	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000254867	Chromatin interaction
ENSG00000087365	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11545221	0.85[EUR][1000 genomes]
rs12575004	0.85[EUR][1000 genomes]
rs59156593	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59768626	1.00[AMR][1000 genomes]
rs66602960	0.90[EUR][1000 genomes]
rs72926858	0.90[EUR][1000 genomes]
rs72926862	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72926898	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928826	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72928851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928860	0.85[EUR][1000 genomes]
rs72928868	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72928879	0.85[EUR][1000 genomes]
rs72928892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72928895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72930984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73496466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
3	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
6	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv897769	chr11:65727799-65828625	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
8	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65730600-65767800	Weak transcription	Right Atrium	heart
2	chr11:65731200-65747400	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:65731200-65747800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:65731200-65748600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:65731200-65749600	Strong transcription	Fetal Intestine Small	intestine
6	chr11:65731400-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:65731400-65747600	Strong transcription	Fetal Thymus	thymus
8	chr11:65731400-65748000	Strong transcription	Thymus	Thymus
9	chr11:65731600-65747400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:65731600-65747800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:65731800-65749000	Strong transcription	Fetal Stomach	stomach
12	chr11:65732000-65747200	Strong transcription	Lung	lung
13	chr11:65732400-65748800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr11:65732800-65748200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:65735200-65750600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:65735800-65756600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:65736400-65767400	Weak transcription	Psoas Muscle	Psoas
18	chr11:65736800-65747800	Strong transcription	Fetal Muscle Trunk	muscle
19	chr11:65737000-65748000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:65737200-65747800	Strong transcription	Placenta	Placenta
21	chr11:65737200-65747800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr11:65737600-65748000	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:65737800-65756600	Weak transcription	Stomach Mucosa	stomach
24	chr11:65739000-65747800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:65739200-65749600	Strong transcription	Fetal Brain Female	brain
26	chr11:65739400-65747200	Strong transcription	Brain Hippocampus Middle	brain
27	chr11:65739400-65747400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr11:65739600-65748000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:65739600-65748800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:65739600-65756400	Weak transcription	Fetal Kidney	kidney
31	chr11:65739800-65747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:65739800-65756400	Weak transcription	Hela-S3	cervix
33	chr11:65740000-65747200	Strong transcription	Spleen	Spleen
34	chr11:65740600-65748000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr11:65740800-65748000	Strong transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:65741000-65747800	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr11:65741200-65765000	Weak transcription	NHDF-Ad	bronchial
38	chr11:65741400-65762000	Weak transcription	HSMMtube	muscle
39	chr11:65741600-65762000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:65742200-65759800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:65742400-65747200	Strong transcription	Adipose Nuclei	Adipose
42	chr11:65742600-65747000	Strong transcription	Brain Anterior Caudate	brain
43	chr11:65742600-65747800	Strong transcription	Osteobl	bone
44	chr11:65742800-65747200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:65742800-65747200	Strong transcription	A549	lung
46	chr11:65742800-65747800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:65742800-65748000	Strong transcription	Primary T cells from cord blood	blood
48	chr11:65743000-65747000	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr11:65743000-65747200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:65743000-65747200	Strong transcription	NHLF	lung

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