Variant report

Variant	rs786498
Chromosome Location	chr2:145591740-145591741
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145276106..145279120-chr2:145591555..145594624,3	K562	blood:
2	chr2:145583345..145587433-chr2:145589219..145592326,4	K562	blood:

Variant related genes	Relation type
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10181009	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10196836	0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1038363	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1085460	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1085461	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1092395	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10928230	0.88[ASN][1000 genomes]
rs11899456	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs13018654	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13028678	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13396130	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1384781	0.88[ASN][1000 genomes]
rs1528186	0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2381663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3856365	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs60111010	0.80[ASN][1000 genomes]
rs706624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs706625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786489	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786492	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786494	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786495	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs786499	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs786500	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs786502	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9646654	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs987762	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145588400-145592000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:145588400-145592600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:145589000-145592200	Weak transcription	NHLF	lung
4	chr2:145589200-145592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:145589400-145592200	Weak transcription	NHDF-Ad	bronchial
6	chr2:145590000-145592000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:145590000-145592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:145590000-145592000	Weak transcription	K562	blood
9	chr2:145590000-145592800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:145591000-145591800	Enhancers	Fetal Brain Female	brain
11	chr2:145591400-145591800	Weak transcription	A549	lung
12	chr2:145591400-145592400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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