Variant report

Variant	rs62429515
Chromosome Location	chr6:140289389-140289390
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139694727..139696690-chr6:140287484..140289536,2	K562	blood:
2	chr6:139694229..139697211-chr6:140287272..140289498,2	MCF-7	breast:
3	chr6:140287936..140290734-chr6:140300872..140302631,2	K562	blood:
4	chr6:140285910..140289430-chr6:140290980..140294749,5	K562	blood:
5	chr6:140287622..140289430-chr6:140290980..140292727,2	K562	blood:
6	chr6:139695190..139698861-chr6:140285934..140289536,4	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1028469	0.98[ASN][1000 genomes]
rs12175776	0.82[EUR][1000 genomes]
rs12525047	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12526885	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12663217	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12663483	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12665399	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13194747	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13194827	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13204837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1416289	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1933742	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1953788	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1953789	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs586246	0.98[ASN][1000 genomes]
rs587235	0.97[ASN][1000 genomes]
rs592056	0.98[ASN][1000 genomes]
rs598498	0.97[ASN][1000 genomes]
rs616279	0.96[ASN][1000 genomes]
rs618515	0.96[ASN][1000 genomes]
rs622216	0.98[ASN][1000 genomes]
rs62429516	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62429517	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647968	0.98[ASN][1000 genomes]
rs67013338	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs679849	0.97[ASN][1000 genomes]
rs680290	0.97[ASN][1000 genomes]
rs681235	0.97[ASN][1000 genomes]
rs6926807	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6928433	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs724061	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7743656	0.90[ASN][1000 genomes]
rs856646	0.98[ASN][1000 genomes]
rs9373255	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376482	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9376485	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9385888	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9389733	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9399298	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9399299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9403134	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9403135	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140284400-140292200	Weak transcription	Placenta	Placenta
2	chr6:140286400-140290000	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:140286800-140291400	Weak transcription	NH-A	brain
4	chr6:140287000-140292600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:140287800-140299000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr6:140288400-140289400	Enhancers	HUVEC	blood vessel
7	chr6:140288800-140289600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:140289200-140289400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:140289200-140291600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:140289200-140291600	Weak transcription	NHDF-Ad	bronchial
11	chr6:140289200-140291600	Weak transcription	Osteobl	bone
12	chr6:140289200-140292400	Weak transcription	HSMM	muscle
13	chr6:140289200-140294400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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