Variant report

Variant	rs11048376
Chromosome Location	chr12:26165585-26165586
allele	A/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]
rs10842653	0.81[JPT][hapmap]
rs11048371	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11048378	0.82[JPT][hapmap]
rs11048379	0.82[JPT][hapmap]
rs11048380	0.82[JPT][hapmap]
rs1120064	0.82[JPT][hapmap]
rs1149804	0.80[GIH][hapmap];0.87[MEX][hapmap];0.82[MKK][hapmap]
rs12578169	0.82[JPT][hapmap]
rs12812752	0.82[JPT][hapmap]
rs1390326	0.82[JPT][hapmap]
rs16929940	0.82[JPT][hapmap]
rs16929945	0.82[JPT][hapmap]
rs16929950	0.82[JPT][hapmap]
rs16929958	0.82[JPT][hapmap]
rs2055180	0.82[JPT][hapmap]
rs6487525	0.81[JPT][hapmap]

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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26160600-26167000	Weak transcription	Gastric	stomach
2	chr12:26160600-26168000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:26160600-26168200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:26160600-26168200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:26160600-26168200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:26160600-26170400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:26160600-26170600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:26160600-26171600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:26161600-26167400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr12:26163400-26168200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:26163600-26166800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:26163600-26167000	Weak transcription	Esophagus	oesophagus
13	chr12:26163600-26170400	Weak transcription	Pancreas	Pancrea
14	chr12:26163800-26168200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:26163800-26168200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:26164000-26168000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:26164200-26167000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:26164200-26167000	Weak transcription	Fetal Heart	heart
19	chr12:26164200-26168200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:26164200-26168200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:26164200-26168200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:26164200-26170400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:26164400-26168200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:26164400-26170400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:26164600-26165800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr12:26164600-26166800	Weak transcription	Brain Substantia Nigra	brain
27	chr12:26164600-26167000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:26164600-26170200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:26164600-26170400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:26164600-26171600	Weak transcription	NH-A	brain
31	chr12:26164800-26165800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr12:26164800-26165800	Weak transcription	Right Atrium	heart
33	chr12:26164800-26166000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:26164800-26166000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr12:26164800-26166000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:26164800-26166000	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:26164800-26166200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:26164800-26166800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr12:26164800-26167000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:26164800-26167000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:26164800-26167000	Weak transcription	Right Ventricle	heart
42	chr12:26164800-26168400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:26164800-26168600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:26164800-26168800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr12:26164800-26169000	Weak transcription	Fetal Lung	lung
46	chr12:26164800-26169200	Weak transcription	NHLF	lung
47	chr12:26164800-26170400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:26164800-26170400	Weak transcription	Adipose Nuclei	Adipose
49	chr12:26164800-26170400	Weak transcription	Aorta	Aorta
50	chr12:26164800-26170400	Weak transcription	Left Ventricle	heart

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