Variant report

Variant	rs12293889
Chromosome Location	chr11:10138833-10138834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11042587	0.82[AFR][1000 genomes]
rs11042597	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042600	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11042649	0.87[AFR][1000 genomes]
rs11042660	0.87[AFR][1000 genomes]
rs11042690	0.92[AFR][1000 genomes]
rs11042693	0.90[AFR][1000 genomes]
rs12272934	0.87[AFR][1000 genomes]
rs12277094	0.82[AFR][1000 genomes]
rs12290428	0.95[AFR][1000 genomes]
rs12291905	0.81[AFR][1000 genomes]
rs13377375	0.90[AFR][1000 genomes]
rs1372813	0.92[AFR][1000 genomes]
rs16907586	0.95[AFR][1000 genomes]
rs59084464	0.95[AFR][1000 genomes]
rs9988844	1.00[AFR][1000 genomes];1.00[AMR][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1036041	chr11:10131018-10212202	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10120400-10142800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr11:10122200-10144200	Weak transcription	Left Ventricle	heart
3	chr11:10122200-10156400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:10122800-10141200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:10122800-10142600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:10123200-10156400	Weak transcription	Fetal Intestine Small	intestine
7	chr11:10126200-10143000	Weak transcription	Ovary	ovary
8	chr11:10131200-10144200	Weak transcription	Psoas Muscle	Psoas
9	chr11:10131400-10139200	Weak transcription	HUVEC	blood vessel
10	chr11:10131400-10142800	Weak transcription	Fetal Brain Male	brain
11	chr11:10131600-10139200	Weak transcription	HSMMtube	muscle
12	chr11:10131600-10139600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:10131800-10139000	Weak transcription	Fetal Lung	lung
14	chr11:10131800-10139000	Weak transcription	HSMM	muscle
15	chr11:10131800-10143600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:10132200-10143000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:10135400-10139600	Enhancers	NHDF-Ad	bronchial
18	chr11:10136600-10139000	Weak transcription	Hela-S3	cervix
19	chr11:10136800-10139000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr11:10136800-10143000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:10137000-10139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:10137200-10139200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:10137200-10139200	Weak transcription	NHLF	lung
24	chr11:10137200-10139600	Weak transcription	A549	lung
25	chr11:10137200-10161800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr11:10138200-10142200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:10138200-10142200	Enhancers	Adipose Nuclei	Adipose
28	chr11:10138400-10139000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:10138400-10139200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:10138400-10139400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:10138400-10139400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:10138400-10139600	Weak transcription	Aorta	Aorta
33	chr11:10138400-10143000	Weak transcription	NHEK	skin
34	chr11:10138600-10141800	Enhancers	Osteobl	bone

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