Variant report

Variant	rs904600
Chromosome Location	chr1:56040926-56040927
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1499659	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566399	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892192	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1909531	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173580	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2867947	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35847721	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4927256	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6656588	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs904603	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56035400-56043200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:56036400-56041000	Weak transcription	Fetal Lung	lung
3	chr1:56037200-56047200	Weak transcription	Esophagus	oesophagus
4	chr1:56038000-56042000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:56038200-56042200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:56038400-56042200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:56038800-56041000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:56039000-56041200	Weak transcription	HSMM	muscle
9	chr1:56039000-56045200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:56039000-56045800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:56039000-56046000	Weak transcription	NHLF	lung
12	chr1:56039000-56046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:56039200-56041400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:56039200-56045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:56039200-56047200	Weak transcription	Psoas Muscle	Psoas
16	chr1:56039400-56041200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:56039400-56041200	Weak transcription	NHDF-Ad	bronchial
18	chr1:56039400-56045000	Weak transcription	HSMMtube	muscle
19	chr1:56039600-56041400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:56039600-56043400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr1:56039600-56046200	Weak transcription	NH-A	brain
22	chr1:56039800-56041200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr1:56040400-56041000	Weak transcription	Brain Angular Gyrus	brain
24	chr1:56040400-56042000	Enhancers	Fetal Muscle Trunk	muscle
25	chr1:56040600-56041200	Weak transcription	Fetal Stomach	stomach
26	chr1:56040600-56042200	Enhancers	Fetal Muscle Leg	muscle
27	chr1:56040600-56058600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr1:56040800-56041800	Enhancers	Osteobl	bone

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