Variant report

Variant	rs2271481
Chromosome Location	chr12:26223583-26223584
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10505990	1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10505991	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10842643	0.90[MEX][hapmap]
rs12578169	0.86[CHD][hapmap];0.81[GIH][hapmap];0.88[AMR][1000 genomes]
rs12579146	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12579157	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12579489	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12581098	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12581361	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12581690	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1390326	0.86[AMR][1000 genomes]
rs1495660	0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16929940	0.89[AMR][1000 genomes]
rs16929945	0.88[AMR][1000 genomes]
rs16929950	0.89[AMR][1000 genomes]
rs16929958	0.90[CHD][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.89[AMR][1000 genomes]
rs16929973	0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35823259	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3741546	0.94[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3741547	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3803009	0.80[CHD][hapmap];0.90[MEX][hapmap]
rs57278012	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58299475	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59757232	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs60335536	0.88[AMR][1000 genomes]
rs60565171	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61409057	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7298162	0.90[MEX][hapmap]
rs7304311	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7309394	0.89[CHB][hapmap];0.97[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7313961	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs954476	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.91[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	nsv973038	chr12:26221928-26224398	Strong transcription Weak transcription Enhancers Genic enhancers	lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26192400-26228600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:26197200-26228600	Weak transcription	Aorta	Aorta
3	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart
6	chr12:26206800-26229600	Weak transcription	Ovary	ovary
7	chr12:26206800-26229800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:26207400-26223600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:26207800-26224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:26207800-26224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:26208400-26234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:26209600-26224800	Weak transcription	Brain Anterior Caudate	brain
13	chr12:26209600-26230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:26211400-26227400	Weak transcription	Placenta	Placenta
15	chr12:26211600-26223800	Weak transcription	Fetal Intestine Large	intestine
16	chr12:26211600-26234600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:26211800-26230800	Weak transcription	Fetal Lung	lung
18	chr12:26214400-26224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:26215200-26230200	Weak transcription	Adipose Nuclei	Adipose
20	chr12:26215800-26230800	Weak transcription	A549	lung
21	chr12:26216000-26226800	Weak transcription	Hela-S3	cervix
22	chr12:26216000-26227600	Weak transcription	HSMMtube	muscle
23	chr12:26216000-26228800	Weak transcription	HSMM	muscle
24	chr12:26216000-26229200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:26216000-26230400	Weak transcription	Psoas Muscle	Psoas
26	chr12:26216000-26230600	Weak transcription	HMEC	breast
27	chr12:26216000-26230800	Weak transcription	NHLF	lung
28	chr12:26216000-26231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr12:26216200-26230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:26216200-26231000	Weak transcription	NH-A	brain
31	chr12:26217000-26226200	Strong transcription	NHDF-Ad	bronchial
32	chr12:26218200-26224000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:26218200-26224000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr12:26219800-26224000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:26220600-26227600	Weak transcription	Fetal Kidney	kidney
36	chr12:26220800-26225000	Weak transcription	Brain Substantia Nigra	brain
37	chr12:26221800-26224400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr12:26221800-26226200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:26221800-26230800	Weak transcription	Fetal Stomach	stomach
40	chr12:26221800-26234000	Weak transcription	Fetal Intestine Small	intestine
41	chr12:26222000-26224800	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:26222000-26228000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr12:26222000-26230800	Weak transcription	NHEK	skin
44	chr12:26222000-26234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:26222200-26224800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr12:26222200-26224800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:26222200-26227600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:26222200-26227800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:26222400-26224800	Weak transcription	Brain Angular Gyrus	brain
50	chr12:26222400-26230200	Weak transcription	HUVEC	blood vessel

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