Variant report

Variant	rs17091849
Chromosome Location	chr12:43154086-43154087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10506218	1.00[ASN][1000 genomes]
rs11181704	1.00[AFR][1000 genomes]
rs11181718	1.00[AFR][1000 genomes]
rs11181723	1.00[AFR][1000 genomes]
rs11181725	1.00[AFR][1000 genomes]
rs11181727	1.00[AFR][1000 genomes]
rs11181735	1.00[AFR][1000 genomes]
rs11181736	1.00[AFR][1000 genomes]
rs11181738	1.00[AFR][1000 genomes]
rs11181740	1.00[AFR][1000 genomes]
rs11181741	1.00[AFR][1000 genomes]
rs11181742	1.00[AFR][1000 genomes]
rs11181743	1.00[AFR][1000 genomes]
rs11181785	1.00[AFR][1000 genomes]
rs11181788	1.00[AFR][1000 genomes]
rs11181790	1.00[AFR][1000 genomes]
rs11181792	1.00[AFR][1000 genomes]
rs11181793	1.00[AFR][1000 genomes]
rs11181799	1.00[AFR][1000 genomes]
rs11181800	1.00[AFR][1000 genomes]
rs11181802	1.00[AFR][1000 genomes]
rs11181803	1.00[AFR][1000 genomes]
rs12227246	1.00[AFR][1000 genomes]
rs12580440	1.00[AFR][1000 genomes]
rs12581647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12582280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091866	1.00[AMR][1000 genomes]
rs17091875	1.00[AMR][1000 genomes]
rs17091890	1.00[AMR][1000 genomes]
rs17091893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59894001	1.00[AFR][1000 genomes]
rs60308009	1.00[AFR][1000 genomes]
rs7295759	1.00[AMR][1000 genomes]
rs7309623	1.00[AMR][1000 genomes]
rs9634307	1.00[AFR][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	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43149600-43154800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:43149600-43156400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:43149800-43155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:43149800-43156600	Enhancers	HMEC	breast
5	chr12:43150200-43154400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:43150200-43154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:43150200-43155200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:43150400-43154800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:43150800-43154800	Enhancers	Fetal Lung	lung
10	chr12:43151200-43155400	Weak transcription	GM12878-XiMat	blood
11	chr12:43152000-43154600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:43152200-43154200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:43152200-43154600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:43152200-43155600	Weak transcription	HSMM	muscle
15	chr12:43152600-43154400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:43152600-43154800	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:43152800-43155000	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr12:43152800-43155400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:43153000-43156800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:43153200-43154800	Enhancers	Fetal Muscle Leg	muscle
21	chr12:43153200-43156600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:43153200-43156600	Enhancers	Osteobl	bone
23	chr12:43153400-43154600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:43153400-43154800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:43153400-43155000	Enhancers	Adipose Nuclei	Adipose
26	chr12:43153400-43156200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:43153600-43154400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:43153600-43154600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr12:43153600-43154600	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:43153600-43154600	Enhancers	Stomach Smooth Muscle	stomach
31	chr12:43153600-43156000	Enhancers	Hela-S3	cervix
32	chr12:43153800-43154200	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:43153800-43154200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:43153800-43154600	Weak transcription	Ovary	ovary
35	chr12:43153800-43156600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:43153800-43161800	Weak transcription	Pancreas	Pancrea
37	chr12:43154000-43154600	Weak transcription	Psoas Muscle	Psoas

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