Variant report

Variant	rs11823329
Chromosome Location	chr11:8080866-8080867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10734628	1.00[CHB][hapmap]
rs11041732	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11601971	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11821236	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11822728	1.00[ASN][1000 genomes]
rs1406096	0.87[ASN][1000 genomes]
rs1881233	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1918849	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2141322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178152	1.00[CHB][hapmap]
rs35326533	0.87[ASN][1000 genomes]
rs35807385	1.00[ASN][1000 genomes]
rs36113068	0.87[ASN][1000 genomes]
rs4483583	1.00[CHB][hapmap]
rs55642260	1.00[ASN][1000 genomes]
rs55810550	1.00[ASN][1000 genomes]
rs55953869	1.00[ASN][1000 genomes]
rs55961279	1.00[ASN][1000 genomes]
rs56242213	1.00[ASN][1000 genomes]
rs56657031	1.00[ASN][1000 genomes]
rs58666270	1.00[ASN][1000 genomes]
rs59924750	1.00[ASN][1000 genomes]
rs7112750	0.87[ASN][1000 genomes]
rs7113956	0.87[ASN][1000 genomes]
rs7124782	0.81[ASN][1000 genomes]
rs73396771	0.87[ASN][1000 genomes]
rs73396784	0.87[ASN][1000 genomes]
rs74052193	1.00[ASN][1000 genomes]
rs74052195	1.00[ASN][1000 genomes]
rs74052196	1.00[ASN][1000 genomes]
rs74052199	1.00[ASN][1000 genomes]
rs7926428	1.00[JPT][hapmap]
rs7939493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7941439	1.00[CHB][hapmap];1.00[JPT][hapmap];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	nsv1052808	chr11:8011647-8129191	Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs11823329	SBF2	cis	parietal	SCAN
rs11823329	OR52H1	cis	cerebellum	SCAN
rs11823329	OR52I1	cis	cerebellum	SCAN
rs11823329	TMEM9B	cis	parietal	SCAN
rs11823329	OR56A3	cis	parietal	SCAN
rs11823329	OR10A5	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8075800-8090000	Weak transcription	Spleen	Spleen
2	chr11:8078200-8081000	Weak transcription	Brain Anterior Caudate	brain
3	chr11:8078200-8084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:8078200-8090400	Enhancers	Adipose Nuclei	Adipose
5	chr11:8078400-8081000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:8078400-8081600	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:8078400-8091400	Weak transcription	Esophagus	oesophagus
8	chr11:8078600-8081000	Weak transcription	Left Ventricle	heart
9	chr11:8078600-8081600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:8078600-8081800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr11:8078800-8081000	Weak transcription	Brain Angular Gyrus	brain
12	chr11:8078800-8081000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:8078800-8081000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:8078800-8081200	Weak transcription	Fetal Kidney	kidney
15	chr11:8078800-8081200	Weak transcription	Ovary	ovary
16	chr11:8078800-8081400	Weak transcription	Fetal Muscle Leg	muscle
17	chr11:8078800-8082000	Weak transcription	NHDF-Ad	bronchial
18	chr11:8078800-8082200	Weak transcription	NHLF	lung
19	chr11:8079000-8081800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:8079000-8081800	Weak transcription	Osteobl	bone
21	chr11:8079000-8082000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:8079000-8082200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:8079000-8082200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:8079200-8081000	Weak transcription	Fetal Intestine Large	intestine
25	chr11:8079200-8081200	Weak transcription	Fetal Intestine Small	intestine
26	chr11:8079200-8081200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:8079200-8082200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:8080000-8081800	Enhancers	Fetal Lung	lung
29	chr11:8080000-8084000	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:8080400-8081800	Enhancers	Stomach Smooth Muscle	stomach
31	chr11:8080600-8083000	Enhancers	Right Atrium	heart
32	chr11:8080600-8085200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr11:8080600-8091600	Enhancers	Right Ventricle	heart
34	chr11:8080800-8081400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:8080800-8081800	Enhancers	Placenta	Placenta
36	chr11:8080800-8082400	Enhancers	Fetal Stomach	stomach
37	chr11:8080800-8083000	Enhancers	Brain Cingulate Gyrus	brain
38	chr11:8080800-8083200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:8080800-8084400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr11:8080800-8084800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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