Variant report

Variant	rs2137550
Chromosome Location	chr12:26230847-26230848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10505989	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10842669	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11048409	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12368460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12369397	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12426668	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1495649	0.90[JPT][hapmap]
rs16929780	0.92[JPT][hapmap]
rs16929815	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs16929860	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs16929894	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs16929895	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs16929904	0.91[JPT][hapmap]
rs16929970	0.88[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16929998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16930076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2048609	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2343200	0.86[CHB][hapmap];0.92[JPT][hapmap]
rs2620705	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2669564	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2669565	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2669566	0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2669568	0.92[JPT][hapmap]
rs2729626	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2729638	0.91[JPT][hapmap]
rs2729643	0.92[JPT][hapmap]
rs2729644	0.92[JPT][hapmap]
rs2729649	0.92[JPT][hapmap]
rs4963644	0.92[JPT][hapmap]
rs4963947	0.92[JPT][hapmap]
rs4963952	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4963953	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60836137	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61123975	0.82[ASN][1000 genomes]
rs6487526	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs7132288	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7306344	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs73080984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7961722	0.88[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9804762	0.82[AMR][1000 genomes];0.93[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	nsv976037	chr12:26228360-26244803	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart
3	chr12:26208400-26234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:26211600-26234600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:26216000-26231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:26216200-26231000	Weak transcription	NH-A	brain
7	chr12:26221800-26234000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:26222000-26234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:26222400-26234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:26222800-26245800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr12:26224000-26234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:26228000-26231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:26229000-26233600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:26229000-26234000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:26229000-26234600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:26229000-26235000	Weak transcription	Aorta	Aorta
17	chr12:26230600-26231400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:26230600-26231400	Enhancers	HMEC	breast
19	chr12:26230600-26231400	Enhancers	NHDF-Ad	bronchial
20	chr12:26230800-26231000	Enhancers	Osteobl	bone
21	chr12:26230800-26231200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:26230800-26231200	Enhancers	Fetal Stomach	stomach
23	chr12:26230800-26231400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:26230800-26231400	Enhancers	A549	lung
25	chr12:26230800-26231400	Enhancers	NHEK	skin
26	chr12:26230800-26231600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:26230800-26232000	Enhancers	Fetal Lung	lung

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