Variant report

Variant	rs793491
Chromosome Location	chr3:99497713-99497714
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99497311..99499461-chr3:99505852..99508651,2	K562	blood:
2	chr3:99497696..99500185-chr3:99535377..99538184,2	K562	blood:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1087198	0.84[AMR][1000 genomes]
rs1287283	0.82[AMR][1000 genomes]
rs1688774	0.84[AMR][1000 genomes]
rs1718244	0.84[AMR][1000 genomes]
rs1718245	0.83[AMR][1000 genomes]
rs704570	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs704573	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs704575	0.83[ASN][1000 genomes]
rs704576	0.83[ASN][1000 genomes]
rs792829	0.83[AMR][1000 genomes]
rs792839	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs793448	0.82[AMR][1000 genomes]
rs793449	0.82[AMR][1000 genomes]
rs793458	0.84[AMR][1000 genomes]
rs793459	0.84[AMR][1000 genomes]
rs793479	0.83[ASN][1000 genomes]
rs793480	0.84[ASN][1000 genomes]
rs793487	0.84[ASN][1000 genomes]
rs793489	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793490	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793494	0.85[AMR][1000 genomes]
rs793495	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	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
3	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
rs793491	FILIP1L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
2	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:99493000-99497800	Genic enhancers	HSMM	muscle
4	chr3:99493200-99499400	Genic enhancers	Osteobl	bone
5	chr3:99494000-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:99494200-99500400	Weak transcription	HMEC	breast
7	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:99494400-99498400	Weak transcription	Aorta	Aorta
9	chr3:99494600-99500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:99495800-99502000	Weak transcription	HUVEC	blood vessel
11	chr3:99496000-99498800	Weak transcription	NHLF	lung
12	chr3:99496000-99499200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:99496000-99499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:99496000-99513000	Weak transcription	NHEK	skin
15	chr3:99496400-99498800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:99496400-99499000	Weak transcription	NH-A	brain
17	chr3:99496400-99500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:99496400-99505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:99496800-99498600	Weak transcription	NHDF-Ad	bronchial
20	chr3:99496800-99498800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr3:99497200-99499000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:99497200-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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