Variant report

Variant	rs1718246
Chromosome Location	chr3:99512688-99512689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99506097..99508207-chr3:99511088..99512864,2	K562	blood:
2	chr3:99510747..99513973-chr3:99518413..99521889,3	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1021103	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1038294	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1688766	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1688771	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1688772	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4075038	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs704582	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7616988	0.81[EUR][1000 genomes]
rs792834	0.82[AMR][1000 genomes]
rs793457	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793472	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793488	0.85[AMR][1000 genomes]
rs793492	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs793496	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs793499	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[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	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1718246	FILIP1L	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99496000-99513000	Weak transcription	NHEK	skin
4	chr3:99501000-99513000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99502600-99518200	Weak transcription	HSMMtube	muscle
6	chr3:99502800-99518400	Weak transcription	NH-A	brain
7	chr3:99504600-99513000	Weak transcription	HSMM	muscle
8	chr3:99505800-99513200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:99508400-99513200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:99508400-99522200	Weak transcription	NHDF-Ad	bronchial
11	chr3:99508600-99513000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:99508800-99518600	Strong transcription	Osteobl	bone
13	chr3:99509200-99513400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:99509800-99512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:99510000-99523600	Weak transcription	HUVEC	blood vessel
16	chr3:99510400-99516200	Weak transcription	NHLF	lung
17	chr3:99510600-99515600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:99511600-99513000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:99511600-99513000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:99511600-99513000	Weak transcription	Aorta	Aorta
21	chr3:99511800-99522800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:99512600-99515000	Weak transcription	Lung	lung

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