Variant report

Variant	rs6701330
Chromosome Location	chr1:169501056-169501057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169449894..169459462-chr1:169475885..169501963,75	MCF-7	breast:
2	chr1:169475721..169488506-chr1:169493331..169501885,21	MCF-7	breast:
3	chr1:169454448..169456119-chr1:169499444..169502094,2	K562	blood:

Variant related genes	Relation type
ENSG00000117479	Chromatin interaction
ENSG00000198734	Chromatin interaction
ENSG00000213062	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10800454	0.87[EUR][1000 genomes]
rs10800456	0.81[CEU][hapmap]
rs1121789	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1557570	0.95[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1557572	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs2157581	0.88[EUR][1000 genomes]
rs2187952	0.84[CHB][hapmap]
rs2187953	0.81[ASN][1000 genomes]
rs2227244	0.84[CHB][hapmap]
rs2239851	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs2239852	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs2298909	0.81[CEU][hapmap]
rs2301515	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs3766103	0.81[JPT][hapmap]
rs3766109	1.00[CHB][hapmap]
rs3820060	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4524	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4525	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs4656185	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4656187	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs4656685	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs4656687	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs6017	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6021	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6030	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6032	1.00[CHB][hapmap]
rs6662593	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs6670393	0.81[ASN][1000 genomes]
rs6670407	0.81[JPT][hapmap]
rs6686805	0.86[EUR][1000 genomes]
rs7535409	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916438	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs9332599	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9332600	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs9332619	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs9332620	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs9332627	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs9332635	0.84[CHB][hapmap]
rs9332643	0.81[CEU][hapmap]
rs9332653	0.84[CHB][hapmap];0.86[JPT][hapmap];0.94[ASN][1000 genomes]
rs9332655	0.95[CEU][hapmap];0.84[CHB][hapmap]
rs9332665	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9332667	0.84[CHB][hapmap]
rs970741	0.81[CEU][hapmap];0.84[CHB][hapmap]
rs974793	0.81[CEU][hapmap];0.84[CHB][hapmap]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872533	chr1:169490401-169508576	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169485400-169510600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:169494000-169502800	Strong transcription	HepG2	liver
3	chr1:169496000-169515200	Strong transcription	Liver	Liver
4	chr1:169498400-169524000	Weak transcription	Placenta	Placenta
5	chr1:169498600-169506200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:169498600-169507600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:169498800-169501600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:169499000-169501800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr1:169499000-169504200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:169499000-169508400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:169499000-169519000	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:169499800-169501800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:169500000-169504600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:169500200-169526800	Weak transcription	Left Ventricle	heart
15	chr1:169500800-169503400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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