Variant report

Variant	rs1013509
Chromosome Location	chr4:54630841-54630842
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1013508	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133286	0.89[EUR][1000 genomes]
rs11133287	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11133288	0.89[EUR][1000 genomes]
rs11721806	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs11723162	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs11731952	0.92[ASN][1000 genomes]
rs11734520	0.95[AFR][1000 genomes];0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12646885	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1498815	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1498816	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1498829	0.95[ASN][1000 genomes]
rs1874915	0.95[ASN][1000 genomes]
rs2102011	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2412491	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2412492	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2412496	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2412498	0.86[ASN][1000 genomes]
rs2412500	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4495107	0.89[ASN][1000 genomes]
rs4501282	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4561980	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4864821	0.95[ASN][1000 genomes]
rs56061807	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60681996	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62297730	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62297732	0.92[ASN][1000 genomes]
rs67780867	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819547	0.98[ASN][1000 genomes]
rs6819611	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6827313	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6827952	0.90[ASN][1000 genomes]
rs6834410	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6837405	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6837817	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6842213	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6842407	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6843127	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6845180	0.91[ASN][1000 genomes]
rs6845286	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6846594	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6850939	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6854881	0.95[ASN][1000 genomes]
rs6858638	0.88[ASN][1000 genomes]
rs7686706	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7688892	0.92[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	nsv879015	chr4:54596466-54665559	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv527672	chr4:54626228-54637201	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54629200-54631200	Enhancers	NHDF-Ad	bronchial
2	chr4:54629200-54631800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:54629200-54634400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr4:54629400-54631200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:54629400-54631800	Enhancers	Ovary	ovary
6	chr4:54629400-54633800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:54629600-54631000	Enhancers	Placenta	Placenta
8	chr4:54629600-54631600	Enhancers	HSMMtube	muscle
9	chr4:54629600-54631800	Enhancers	HSMM	muscle
10	chr4:54629600-54631800	Enhancers	NH-A	brain
11	chr4:54629600-54632000	Enhancers	Fetal Stomach	stomach
12	chr4:54630000-54631800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr4:54630200-54631000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr4:54630200-54631600	Enhancers	Colon Smooth Muscle	Colon
15	chr4:54630200-54632200	Enhancers	Fetal Kidney	kidney
16	chr4:54630400-54631000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:54630400-54631000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr4:54630400-54631000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr4:54630400-54631400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:54630400-54632000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:54630600-54631000	Enhancers	Brain Germinal Matrix	brain
22	chr4:54630600-54631200	Enhancers	A549	lung
23	chr4:54630600-54632400	Weak transcription	HMEC	breast
24	chr4:54630800-54631000	Flanking Active TSS	Osteobl	bone
25	chr4:54630800-54631600	Enhancers	Fetal Lung	lung
26	chr4:54630800-54634000	Enhancers	NHLF	lung
27	chr4:54630800-54635000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:54630800-54635800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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