Variant report

Variant	rs60119031
Chromosome Location	chr3:99498885-99498886
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99498216..99500096-chr3:99501454..99503765,4	K562	blood:
2	chr3:99497311..99499461-chr3:99505852..99508651,2	K562	blood:
3	chr3:99497696..99500185-chr3:99535377..99538184,2	K562	blood:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1038295	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10804762	0.93[ASN][1000 genomes]
rs12485299	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12486901	0.90[ASN][1000 genomes]
rs12489030	0.90[ASN][1000 genomes]
rs1492343	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1610265	0.83[EUR][1000 genomes]
rs1871847	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35590972	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3732444	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs3921767	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4928143	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4928222	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55964918	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56094673	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56140081	0.90[ASN][1000 genomes]
rs56223679	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56260910	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56335268	0.87[ASN][1000 genomes]
rs61010376	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6789694	0.91[EUR][1000 genomes]
rs6792339	0.90[ASN][1000 genomes]
rs6800456	0.90[ASN][1000 genomes]
rs73858966	0.90[ASN][1000 genomes]
rs73859911	0.90[ASN][1000 genomes]
rs73860464	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73860470	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7632345	0.90[ASN][1000 genomes]
rs7635871	0.90[ASN][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

No data

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	chr3:99493200-99499400	Genic enhancers	Osteobl	bone
4	chr3:99494000-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99494200-99500400	Weak transcription	HMEC	breast
6	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:99494600-99500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:99495800-99502000	Weak transcription	HUVEC	blood vessel
9	chr3:99496000-99499200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:99496000-99499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:99496000-99513000	Weak transcription	NHEK	skin
12	chr3:99496400-99499000	Weak transcription	NH-A	brain
13	chr3:99496400-99500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:99496400-99505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:99497200-99499000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr3:99497200-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:99498400-99499400	Strong transcription	Aorta	Aorta
18	chr3:99498600-99503000	Enhancers	NHDF-Ad	bronchial
19	chr3:99498800-99499000	Weak transcription	HSMM	muscle
20	chr3:99498800-99499000	Enhancers	NHLF	lung
21	chr3:99498800-99500000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:99498800-99502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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