Variant report

Variant	rs3121000
Chromosome Location	chr1:150166486-150166487
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	chr1:150158453..150162673-chr1:150163333..150168341,4	K562	blood:
2	chr1:149857548..149860200-chr1:150165414..150168428,4	K562	blood:

Variant related genes	Relation type
ENSG00000184678	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10788872	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10888574	0.81[ASN][1000 genomes]
rs10888575	0.94[ASN][1000 genomes]
rs10888576	0.90[ASN][1000 genomes]
rs11205339	0.94[ASN][1000 genomes]
rs11205340	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205343	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205347	0.88[ASN][1000 genomes]
rs11205348	0.86[ASN][1000 genomes]
rs11811787	0.91[ASN][1000 genomes]
rs12131063	0.94[ASN][1000 genomes]
rs12133235	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12133238	0.94[ASN][1000 genomes]
rs12569047	0.84[ASN][1000 genomes]
rs1535873	0.94[ASN][1000 genomes]
rs1924549	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038752	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2038753	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3118124	0.94[ASN][1000 genomes]
rs3121001	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4408187	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55647200	0.90[ASN][1000 genomes]
rs55956539	0.90[ASN][1000 genomes]
rs59507173	0.94[ASN][1000 genomes]
rs61161619	0.86[ASN][1000 genomes]
rs6587753	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6655935	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6660127	0.94[ASN][1000 genomes]
rs6665499	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6680040	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6682434	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6692738	0.94[ASN][1000 genomes]
rs6694215	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6703332	0.93[ASN][1000 genomes]
rs7522034	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7532164	0.90[ASN][1000 genomes]
rs7548543	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7551023	0.94[ASN][1000 genomes]
rs7555995	0.88[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	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv535153	chr1:150147218-150168829	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150160200-150166600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:150164200-150166800	Enhancers	NH-A	brain
3	chr1:150165000-150166600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:150165000-150166600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:150165000-150166600	Weak transcription	NHDF-Ad	bronchial
6	chr1:150165000-150166800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:150165000-150166800	Weak transcription	NHLF	lung
8	chr1:150165200-150166600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:150165200-150166800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:150165600-150166600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:150165600-150166600	Weak transcription	HSMMtube	muscle
12	chr1:150165600-150166800	Weak transcription	A549	lung
13	chr1:150165800-150166800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:150165800-150166800	Weak transcription	HSMM	muscle
15	chr1:150166000-150167000	Weak transcription	Fetal Heart	heart
16	chr1:150166400-150166800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:150166400-150166800	Enhancers	Osteobl	bone

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