Variant report

Variant	rs1236206
Chromosome Location	chr11:17808997-17808998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160556	0.97[ASN][1000 genomes]
rs10766440	0.97[ASN][1000 genomes]
rs10832860	0.97[ASN][1000 genomes]
rs2079227	0.93[ASN][1000 genomes]
rs2237950	0.96[ASN][1000 genomes]
rs2237952	0.94[ASN][1000 genomes]
rs2283250	0.95[ASN][1000 genomes]
rs2283251	0.97[ASN][1000 genomes]
rs2299634	0.98[ASN][1000 genomes]
rs3802969	0.95[ASN][1000 genomes]
rs3802970	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4757589	0.99[ASN][1000 genomes]
rs7110010	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs999420	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467718	chr11:17744992-17809724	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv553589	chr11:17744992-17809724	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv516767	chr11:17758587-17809724	Bivalent Enhancer Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17788000-17811400	Weak transcription	Brain Anterior Caudate	brain
2	chr11:17792000-17815000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr11:17792000-17818400	Weak transcription	Right Atrium	heart
4	chr11:17793200-17809800	Weak transcription	Fetal Intestine Small	intestine
5	chr11:17796800-17828800	Weak transcription	Brain Germinal Matrix	brain
6	chr11:17798000-17819800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:17801600-17821800	Weak transcription	Spleen	Spleen
8	chr11:17802600-17819400	Weak transcription	Esophagus	oesophagus
9	chr11:17802800-17832400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:17803400-17815200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:17803400-17819400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:17804000-17809200	Weak transcription	HepG2	liver
13	chr11:17804000-17819400	Weak transcription	Liver	Liver
14	chr11:17804800-17809400	Weak transcription	Ovary	ovary
15	chr11:17804800-17813800	Weak transcription	Pancreas	Pancrea
16	chr11:17805000-17819800	Weak transcription	Fetal Brain Male	brain
17	chr11:17805800-17829000	Weak transcription	Fetal Stomach	stomach
18	chr11:17806000-17837800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr11:17806600-17815200	Weak transcription	Lung	lung
20	chr11:17806600-17817200	Weak transcription	Gastric	stomach
21	chr11:17806600-17819400	Weak transcription	Right Ventricle	heart
22	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
23	chr11:17807200-17812400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:17807200-17818600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:17807400-17809000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr11:17807400-17810400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:17807600-17810400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:17807600-17810800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:17807800-17810200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr11:17807800-17812000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:17808000-17809000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:17808000-17809000	Enhancers	HSMM	muscle
33	chr11:17808000-17809200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr11:17808000-17809200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:17808000-17809200	Enhancers	NHEK	skin
36	chr11:17808000-17809400	Enhancers	HMEC	breast
37	chr11:17808000-17809400	Enhancers	NH-A	brain
38	chr11:17808000-17809400	Enhancers	NHDF-Ad	bronchial
39	chr11:17808000-17809400	Enhancers	NHLF	lung
40	chr11:17808000-17809600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:17808000-17809600	Enhancers	HSMMtube	muscle
42	chr11:17808200-17814000	Weak transcription	Brain Angular Gyrus	brain
43	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
44	chr11:17808400-17809000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:17808400-17809200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:17808400-17809200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:17808400-17809400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:17808400-17810600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:17808600-17809000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:17808600-17809000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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