Variant report

Variant	rs59236443
Chromosome Location	chr1:56052350-56052351
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12068867	1.00[EUR][1000 genomes]
rs12071564	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12076746	1.00[EUR][1000 genomes]
rs12081733	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088041	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1392137	1.00[EUR][1000 genomes]
rs17112410	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17112413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28475680	1.00[EUR][1000 genomes]
rs59539072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60149406	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	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6680818	0.95[ASN][1000 genomes]
rs7416182	1.00[EUR][1000 genomes]
rs7520444	0.92[AFR][1000 genomes];1.00[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:56042200-56052400	Weak transcription	Right Atrium	heart
3	chr1:56049600-56052400	Enhancers	Brain Germinal Matrix	brain
4	chr1:56049600-56053200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:56050000-56052600	Enhancers	Colon Smooth Muscle	Colon
6	chr1:56050600-56055400	Weak transcription	Ovary	ovary
7	chr1:56050800-56052400	Weak transcription	Left Ventricle	heart
8	chr1:56050800-56052400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:56050800-56057800	Weak transcription	Right Ventricle	heart
10	chr1:56051000-56055200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:56051000-56055200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:56051000-56055800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:56051200-56053800	Weak transcription	Fetal Lung	lung
14	chr1:56051200-56053800	Weak transcription	NHDF-Ad	bronchial
15	chr1:56051200-56054400	Weak transcription	Osteobl	bone
16	chr1:56051200-56055200	Weak transcription	Adipose Nuclei	Adipose
17	chr1:56051200-56055200	Weak transcription	HSMM	muscle
18	chr1:56051200-56055400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:56051200-56057200	Weak transcription	Fetal Heart	heart
20	chr1:56051400-56052400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:56051400-56052400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:56051400-56052600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:56051400-56053800	Weak transcription	Fetal Stomach	stomach
24	chr1:56051400-56054000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:56051400-56054000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:56051400-56055400	Weak transcription	NHLF	lung
27	chr1:56052000-56052800	Enhancers	Rectal Smooth Muscle	rectum
28	chr1:56052000-56053200	Enhancers	Aorta	Aorta
29	chr1:56052000-56053200	Enhancers	HMEC	breast
30	chr1:56052200-56052400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:56052200-56052600	Enhancers	HSMMtube	muscle
32	chr1:56052200-56052800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:56052200-56052800	Enhancers	Fetal Muscle Leg	muscle
34	chr1:56052200-56052800	Enhancers	Psoas Muscle	Psoas
35	chr1:56052200-56053800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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