Variant report

Variant	rs11217771
Chromosome Location	chr11:120098180-120098181
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120089189..120092047-chr11:120097539..120099779,2	K562	blood:
2	chr11:120041545..120045663-chr11:120098074..120102653,6	MCF-7	breast:
3	chr11:120091006..120093784-chr11:120097633..120101741,5	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10790370	0.86[ASN][1000 genomes]
rs11217768	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11217773	0.93[EUR][1000 genomes]
rs12222405	0.86[ASN][1000 genomes]
rs12223954	0.98[ASN][1000 genomes]
rs12225131	0.85[ASN][1000 genomes]
rs1551240	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1551241	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1551242	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56667128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59565018	0.80[EUR][1000 genomes]
rs72645479	0.89[ASN][1000 genomes]
rs731512	0.99[ASN][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:65 , 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	chr11:120091000-120102800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:120092800-120102000	Weak transcription	Brain Angular Gyrus	brain
6	chr11:120093600-120100600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:120094400-120100200	Strong transcription	HepG2	liver
8	chr11:120094600-120098400	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr11:120094800-120100800	Weak transcription	Stomach Mucosa	stomach
10	chr11:120095800-120100200	Strong transcription	Pancreas	Pancrea
11	chr11:120096000-120099600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:120096000-120100600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:120096000-120100600	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:120096200-120100600	Weak transcription	Fetal Kidney	kidney
15	chr11:120096400-120101000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr11:120096400-120101200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr11:120096400-120102200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:120096600-120098200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:120096600-120098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:120096600-120099600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:120096600-120099600	Weak transcription	Lung	lung
22	chr11:120096600-120099800	Genic enhancers	Spleen	Spleen
23	chr11:120096600-120100200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:120096600-120100600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:120096600-120100800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:120096600-120110800	Weak transcription	Right Atrium	heart
27	chr11:120096800-120100000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:120096800-120100200	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:120096800-120100400	Strong transcription	Colonic Mucosa	Colon
30	chr11:120096800-120101000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr11:120096800-120102400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:120097000-120098200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:120097000-120098600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr11:120097000-120098600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:120097000-120099800	Strong transcription	Adipose Nuclei	Adipose
36	chr11:120097000-120100000	Weak transcription	Fetal Lung	lung
37	chr11:120097000-120100000	Strong transcription	Gastric	stomach
38	chr11:120097000-120101200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:120097000-120103000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:120097200-120098200	Genic enhancers	Monocytes-CD14+_RO01746	blood
41	chr11:120097200-120099000	Strong transcription	Right Ventricle	heart
42	chr11:120097200-120100200	Strong transcription	Fetal Intestine Small	intestine
43	chr11:120097200-120101000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr11:120097200-120106200	Weak transcription	Esophagus	oesophagus
45	chr11:120097400-120098400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:120097400-120099200	Weak transcription	Left Ventricle	heart
47	chr11:120097400-120100000	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:120097400-120100400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:120097400-120100400	Strong transcription	NHLF	lung
50	chr11:120097400-120102000	Strong transcription	Fetal Intestine Large	intestine

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