Variant report

Variant	rs2669554
Chromosome Location	chr12:26167260-26167261
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10842652	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11048375	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11494759	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs1355707	0.86[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1994997	0.82[JPT][hapmap]
rs2643934	0.82[AFR][1000 genomes]
rs2669560	0.86[CEU][hapmap]
rs2729633	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs2729653	0.81[EUR][1000 genomes]
rs2729654	0.84[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2729660	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2840134	0.81[ASN][1000 genomes]
rs6487523	0.91[ASN][1000 genomes]
rs924049	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs924052	0.86[CEU][hapmap];0.86[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs949849	0.90[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[EUR][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:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:26160600-26168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:26160600-26168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:26160600-26168200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
7	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:26161600-26167400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr12:26163400-26168200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:26163600-26170400	Weak transcription	Pancreas	Pancrea
11	chr12:26163800-26168200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:26163800-26168200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:26164000-26168000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:26164200-26168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr12:26164200-26168200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:26164200-26168200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:26164200-26170400	Weak transcription	Brain Angular Gyrus	brain
18	chr12:26164400-26168200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:26164400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:26164600-26170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:26164600-26170400	Weak transcription	Brain Anterior Caudate	brain
22	chr12:26164600-26171600	Weak transcription	NH-A	brain
23	chr12:26164800-26168400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:26164800-26168600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:26164800-26168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:26164800-26169000	Weak transcription	Fetal Lung	lung
27	chr12:26164800-26169200	Weak transcription	NHLF	lung
28	chr12:26164800-26170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:26164800-26170400	Weak transcription	Adipose Nuclei	Adipose
30	chr12:26164800-26170400	Weak transcription	Aorta	Aorta
31	chr12:26164800-26170400	Weak transcription	Left Ventricle	heart
32	chr12:26164800-26170400	Weak transcription	Lung	lung
33	chr12:26164800-26170400	Weak transcription	Ovary	ovary
34	chr12:26164800-26170400	Weak transcription	Psoas Muscle	Psoas
35	chr12:26164800-26170400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr12:26164800-26170400	Weak transcription	Hela-S3	cervix
37	chr12:26164800-26170400	Weak transcription	HSMM	muscle
38	chr12:26164800-26170400	Weak transcription	NHEK	skin
39	chr12:26164800-26170600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:26164800-26173200	Weak transcription	HMEC	breast
41	chr12:26165000-26169200	Weak transcription	HUVEC	blood vessel
42	chr12:26165000-26169400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:26165000-26171600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:26165200-26168400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:26165200-26171400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:26165800-26168400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:26166000-26167400	Enhancers	Brain Cingulate Gyrus	brain
48	chr12:26166000-26167400	Enhancers	Brain Hippocampus Middle	brain
49	chr12:26166200-26167400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:26166200-26170400	Weak transcription	Brain Inferior Temporal Lobe	brain

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