Variant report

Variant	rs829819
Chromosome Location	chr12:26100915-26100916
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1149805	1.00[AMR][1000 genomes]
rs1149808	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1691894	1.00[AMR][1000 genomes]
rs2634178	1.00[AMR][1000 genomes]
rs706523	1.00[AMR][1000 genomes]
rs706535	1.00[AMR][1000 genomes]
rs706537	1.00[AMR][1000 genomes]
rs7133619	1.00[AMR][1000 genomes]
rs7133628	1.00[AMR][1000 genomes]
rs7133954	1.00[AMR][1000 genomes]
rs7965778	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	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv557802	chr12:26093161-26112158	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26085400-26110600	Weak transcription	Aorta	Aorta
2	chr12:26086800-26110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:26090200-26110200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:26090400-26107800	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:26091000-26107000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:26091400-26110000	Weak transcription	Psoas Muscle	Psoas
7	chr12:26092000-26110600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr12:26092400-26108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:26092800-26109400	Weak transcription	Ovary	ovary
10	chr12:26093400-26110400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:26095800-26105600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr12:26095800-26108600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:26095800-26111000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:26096200-26103600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:26096200-26107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:26096600-26107000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:26096600-26107000	Weak transcription	Left Ventricle	heart
18	chr12:26097400-26107000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:26097400-26110600	Weak transcription	Right Ventricle	heart
20	chr12:26097600-26107000	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:26097600-26110400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:26098000-26110200	Weak transcription	HSMM	muscle
23	chr12:26099000-26107000	Weak transcription	NHDF-Ad	bronchial
24	chr12:26099800-26107800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr12:26099800-26110200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:26100400-26103600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:26100600-26103400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:26100800-26103400	Weak transcription	Hela-S3	cervix

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