Variant report

Variant	rs2729626
Chromosome Location	chr12:26228819-26228820
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10505989	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10842654	0.86[MEX][hapmap]
rs10842669	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11048409	0.81[AMR][1000 genomes]
rs1149806	0.88[YRI][hapmap]
rs12368460	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12369397	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12426668	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1495649	0.90[JPT][hapmap]
rs1513129	0.85[MKK][hapmap]
rs1546550	0.95[CEU][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs16929780	0.92[JPT][hapmap]
rs16929815	0.92[JPT][hapmap]
rs16929860	0.92[JPT][hapmap]
rs16929894	0.92[JPT][hapmap]
rs16929895	0.92[JPT][hapmap]
rs16929904	0.91[JPT][hapmap]
rs16929970	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16929998	0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs16930076	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1707624	0.88[YRI][hapmap]
rs2048609	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2137550	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2271480	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2343200	0.92[JPT][hapmap]
rs2620705	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2643943	0.82[ASN][1000 genomes]
rs2669562	0.85[MKK][hapmap]
rs2669563	0.97[EUR][1000 genomes]
rs2669564	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2669565	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2669566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2669567	0.91[EUR][1000 genomes]
rs2669568	0.92[JPT][hapmap]
rs2729638	0.80[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
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	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4963953	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60836137	0.86[AMR][1000 genomes]
rs61123975	0.88[ASN][1000 genomes]
rs6487526	0.80[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs7132288	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7306344	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73080925	0.85[ASN][1000 genomes]
rs73080984	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7961722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9804762	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2729626	FBLL1	trans	brain	seeQTL

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26200800-26229000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:26201200-26234600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:26201600-26236200	Weak transcription	Right Ventricle	heart
4	chr12:26206800-26229600	Weak transcription	Ovary	ovary
5	chr12:26206800-26229800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:26208400-26234600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:26209600-26230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:26211600-26234600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:26211800-26230800	Weak transcription	Fetal Lung	lung
10	chr12:26215200-26230200	Weak transcription	Adipose Nuclei	Adipose
11	chr12:26215800-26230800	Weak transcription	A549	lung
12	chr12:26216000-26229200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:26216000-26230400	Weak transcription	Psoas Muscle	Psoas
14	chr12:26216000-26230600	Weak transcription	HMEC	breast
15	chr12:26216000-26230800	Weak transcription	NHLF	lung
16	chr12:26216000-26231000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:26216200-26230800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:26216200-26231000	Weak transcription	NH-A	brain
19	chr12:26221800-26230800	Weak transcription	Fetal Stomach	stomach
20	chr12:26221800-26234000	Weak transcription	Fetal Intestine Small	intestine
21	chr12:26222000-26230800	Weak transcription	NHEK	skin
22	chr12:26222000-26234600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:26222400-26230200	Weak transcription	HUVEC	blood vessel
24	chr12:26222400-26230400	Weak transcription	Left Ventricle	heart
25	chr12:26222400-26234000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:26222800-26245800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:26223200-26230800	Weak transcription	Osteobl	bone
28	chr12:26223400-26230600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:26224000-26230800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:26224000-26234000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:26226200-26230800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:26227600-26229000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:26228000-26229000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:26228000-26231000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:26228400-26229000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr12:26228400-26230400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:26228600-26229000	ZNF genes & repeats	Aorta	Aorta
38	chr12:26228800-26229000	ZNF genes & repeats	HSMM	muscle
39	chr12:26228800-26230600	Weak transcription	NHDF-Ad	bronchial

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