Variant report

Variant	rs10166352
Chromosome Location	chr2:172861272-172861273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172860607..172867322-chr2:172946572..172954768,24	MCF-7	breast:
2	chr2:172859788..172868192-chr2:172944876..172951443,18	MCF-7	breast:
3	chr2:172860017..172861984-chr2:172875793..172878198,2	K562	blood:
4	chr2:172824513..172827435-chr2:172859030..172861572,2	K562	blood:
5	chr2:172859684..172862159-chr2:172863026..172866256,3	MCF-7	breast:
6	chr2:172860889..172863133-chr2:172947915..172949800,2	K562	blood:
7	chr2:172859011..172861815-chr2:172965518..172968253,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000236651	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000115844	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10188587	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10439296	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930496	0.80[AMR][1000 genomes]
rs10930498	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10930500	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930501	0.80[ASN][1000 genomes]
rs11676484	0.80[ASN][1000 genomes]
rs11692418	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11695887	0.93[ASN][1000 genomes]
rs11883977	0.91[ASN][1000 genomes]
rs11903410	0.82[ASN][1000 genomes]
rs12468218	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12473516	0.80[ASN][1000 genomes]
rs12478215	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12617265	0.85[AMR][1000 genomes]
rs12692977	0.81[AMR][1000 genomes]
rs12692979	0.80[AMR][1000 genomes]
rs13017988	0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13018515	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1443699	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1443700	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2028670	0.80[ASN][1000 genomes]
rs2028671	0.80[ASN][1000 genomes]
rs2056202	0.81[AMR][1000 genomes]
rs2176466	0.81[AMR][1000 genomes]
rs2357206	0.81[AMR][1000 genomes]
rs2884123	0.81[AMR][1000 genomes]
rs3791343	0.80[ASN][1000 genomes]
rs4072279	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4324292	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4668415	0.81[AMR][1000 genomes]
rs4668419	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59853867	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6433317	0.82[AMR][1000 genomes]
rs6433322	0.82[ASN][1000 genomes]
rs6707142	0.80[ASN][1000 genomes]
rs6708365	0.81[AMR][1000 genomes]
rs6711813	0.83[AMR][1000 genomes]
rs6714214	0.80[ASN][1000 genomes]
rs6726991	0.81[AMR][1000 genomes]
rs6727459	0.81[AMR][1000 genomes]
rs6733123	0.82[ASN][1000 genomes]
rs6736159	0.81[AMR][1000 genomes]
rs6740705	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6757680	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6758494	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6760680	0.80[EUR][1000 genomes]
rs7340516	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7371503	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7371631	0.82[ASN][1000 genomes]
rs7579509	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7580132	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7580232	0.81[AMR][1000 genomes]
rs7588025	0.82[AMR][1000 genomes]
rs7594478	0.93[AMR][1000 genomes];0.91[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	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:172847400-172864000	Weak transcription	HSMM	muscle
4	chr2:172848000-172863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:172849600-172863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:172856600-172863200	Weak transcription	K562	blood
7	chr2:172858600-172863200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:172859400-172863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:172860000-172863000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:172861000-172861400	Enhancers	Ovary	ovary
11	chr2:172861200-172864000	Weak transcription	Right Atrium	heart
12	chr2:172861200-172864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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