Variant report

Variant	rs60149406
Chromosome Location	chr1:56053512-56053513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1039295	1.00[EUR][1000 genomes]
rs10493193	1.00[ASN][1000 genomes]
rs10493194	1.00[ASN][1000 genomes]
rs11206626	0.95[ASN][1000 genomes]
rs11206627	0.95[ASN][1000 genomes]
rs11206645	1.00[EUR][1000 genomes]
rs1165460	1.00[EUR][1000 genomes]
rs12059018	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12068867	1.00[EUR][1000 genomes]
rs12071564	1.00[EUR][1000 genomes]
rs12076746	1.00[EUR][1000 genomes]
rs12081733	1.00[EUR][1000 genomes]
rs12088041	1.00[EUR][1000 genomes]
rs1392137	1.00[EUR][1000 genomes]
rs17112410	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112413	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112445	0.81[AMR][1000 genomes]
rs28475680	1.00[EUR][1000 genomes]
rs59236443	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59539072	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588567	0.95[ASN][1000 genomes]
rs6670673	0.98[ASN][1000 genomes]
rs6677373	1.00[EUR][1000 genomes]
rs6680818	0.95[ASN][1000 genomes]
rs7416182	1.00[EUR][1000 genomes]
rs7520444	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7548272	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv10184	chr1:55728755-56084833	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv523489	chr1:56038407-56066503	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56050600-56055400	Weak transcription	Ovary	ovary
3	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
4	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:56051000-56055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:56051200-56053800	Weak transcription	Fetal Lung	lung
8	chr1:56051200-56053800	Weak transcription	NHDF-Ad	bronchial
9	chr1:56051200-56054400	Weak transcription	Osteobl	bone
10	chr1:56051200-56055200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:56051200-56055200	Weak transcription	HSMM	muscle
12	chr1:56051200-56055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart
14	chr1:56051400-56053800	Weak transcription	Fetal Stomach	stomach
15	chr1:56051400-56054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:56051400-56054000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr1:56051400-56055400	Weak transcription	NHLF	lung
18	chr1:56052200-56053800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:56052600-56057800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:56052800-56053800	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:56052800-56053800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:56052800-56055000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:56052800-56055400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:56052800-56055400	Weak transcription	Left Ventricle	heart
25	chr1:56052800-56055400	Weak transcription	Psoas Muscle	Psoas
26	chr1:56052800-56055400	Weak transcription	Right Atrium	heart
27	chr1:56052800-56060400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:56053200-56053600	Weak transcription	Aorta	Aorta
29	chr1:56053200-56053800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:56053200-56054400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:56053200-56055000	Weak transcription	HMEC	breast

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