Variant report

Variant	rs873059
Chromosome Location	chr11:120097498-120097499
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	chr11:120088424..120091961-chr11:120094010..120097522,6	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10892550	0.83[ASN][1000 genomes]
rs10892551	1.00[ASN][1000 genomes]
rs11217769	0.83[AFR][1000 genomes]
rs11217770	1.00[ASN][1000 genomes]
rs11600568	0.85[AFR][1000 genomes]
rs12786658	1.00[ASN][1000 genomes]
rs12793354	1.00[ASN][1000 genomes]
rs12808181	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2847498	0.81[AMR][1000 genomes]
rs882856	0.88[AMR][1000 genomes];0.95[EUR][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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120084200-120102600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:120089800-120099600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:120090800-120099600	Weak transcription	NHDF-Ad	bronchial
4	chr11:120091000-120097600	Genic enhancers	Liver	Liver
5	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:120091800-120097600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:120092800-120102000	Weak transcription	Brain Angular Gyrus	brain
8	chr11:120093600-120100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:120094400-120100200	Strong transcription	HepG2	liver
10	chr11:120094600-120097800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:120094600-120098400	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr11:120094800-120100800	Weak transcription	Stomach Mucosa	stomach
13	chr11:120095000-120097800	Genic enhancers	Fetal Stomach	stomach
14	chr11:120095200-120097800	Enhancers	Brain Hippocampus Middle	brain
15	chr11:120095200-120098000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:120095600-120097600	Enhancers	Brain Cingulate Gyrus	brain
17	chr11:120095600-120097800	Enhancers	Brain Substantia Nigra	brain
18	chr11:120095800-120097600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:120095800-120100200	Strong transcription	Pancreas	Pancrea
20	chr11:120096000-120099600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:120096000-120100600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:120096000-120100600	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:120096200-120097600	Genic enhancers	Stomach Smooth Muscle	stomach
24	chr11:120096200-120097600	Weak transcription	GM12878-XiMat	blood
25	chr11:120096200-120100600	Weak transcription	Fetal Kidney	kidney
26	chr11:120096400-120097800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr11:120096400-120101000	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:120096400-120101200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr11:120096400-120102200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:120096600-120097600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:120096600-120097600	Weak transcription	Brain Anterior Caudate	brain
32	chr11:120096600-120098200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:120096600-120098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:120096600-120099600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:120096600-120099600	Weak transcription	Lung	lung
36	chr11:120096600-120099800	Genic enhancers	Spleen	Spleen
37	chr11:120096600-120100200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:120096600-120100600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:120096600-120100800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
41	chr11:120096800-120100000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:120096800-120100200	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:120096800-120100400	Strong transcription	Colonic Mucosa	Colon
44	chr11:120096800-120101000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr11:120096800-120102400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:120097000-120098000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr11:120097000-120098200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:120097000-120098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:120097000-120098600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:120097000-120099800	Strong transcription	Adipose Nuclei	Adipose

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