Variant report

Variant	rs11494759
Chromosome Location	chr12:26178008-26178009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10771254	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10842652	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10842654	0.88[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs1355707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16929857	0.88[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs1797943	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2643934	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2669554	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs2669560	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2669561	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2669568	0.82[CHB][hapmap]
rs2729633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2729653	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2729654	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3803008	0.87[ASN][1000 genomes]
rs4963643	0.88[ASN][1000 genomes]
rs73079021	0.93[ASN][1000 genomes]
rs924049	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs924052	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs949849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9804876	0.88[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26167400-26180600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:26169400-26185400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr12:26169600-26182000	Weak transcription	NHLF	lung
4	chr12:26170800-26181600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:26170800-26182000	Weak transcription	Pancreas	Pancrea
6	chr12:26170800-26185600	Weak transcription	Aorta	Aorta
7	chr12:26171000-26182000	Weak transcription	HUVEC	blood vessel
8	chr12:26171000-26183800	Weak transcription	Hela-S3	cervix
9	chr12:26171000-26190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:26172000-26182000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:26172200-26180200	Weak transcription	NH-A	brain
12	chr12:26172200-26180400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:26172200-26181800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:26172400-26180000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:26172600-26180000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:26172600-26180000	Weak transcription	NHDF-Ad	bronchial
17	chr12:26173200-26180000	Weak transcription	Osteobl	bone
18	chr12:26173400-26186800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:26174200-26180600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:26174600-26182000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:26174600-26185600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr12:26174800-26181800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:26174800-26182000	Weak transcription	Right Atrium	heart
24	chr12:26174800-26185600	Weak transcription	Ovary	ovary
25	chr12:26175000-26180800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:26175000-26181400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:26175000-26181800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:26175000-26190600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:26175000-26191000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:26175200-26179200	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:26175200-26182000	Weak transcription	Brain Anterior Caudate	brain
32	chr12:26175200-26186800	Weak transcription	Psoas Muscle	Psoas
33	chr12:26175200-26190800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:26175400-26180200	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:26175400-26180400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:26175400-26180600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:26175400-26180800	Weak transcription	Brain Angular Gyrus	brain
38	chr12:26175400-26180800	Weak transcription	Brain Substantia Nigra	brain
39	chr12:26175400-26181800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:26175400-26185800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:26175400-26190000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:26176000-26184200	Weak transcription	Left Ventricle	heart
43	chr12:26176800-26178200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:26177600-26180000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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