Variant report

Variant	rs2357323
Chromosome Location	chr2:172941078-172941079
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	chr2:172889910..172891414-chr2:172938513..172941287,2	MCF-7	breast:
2	chr2:172940631..172943115-chr2:172943509..172946716,3	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10167594	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10171214	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10203462	0.89[ASN][1000 genomes]
rs10209911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1038564	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497377	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10930503	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12052482	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12328877	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12616766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12622144	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12622385	0.85[AMR][1000 genomes]
rs1344393	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17581481	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17581509	0.85[AMR][1000 genomes]
rs17615352	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17615589	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17615607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3796058	0.86[ASN][1000 genomes]
rs56923699	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57377675	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs57656367	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73976544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73976547	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv875412	chr2:172903124-172942448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172911200-172947200	Weak transcription	HSMM	muscle
2	chr2:172917800-172944800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:172925800-172942400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:172927200-172941600	Weak transcription	Gastric	stomach
5	chr2:172931600-172944800	Weak transcription	Ovary	ovary
6	chr2:172931800-172942600	Weak transcription	K562	blood
7	chr2:172934000-172943200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:172940600-172942800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:172940800-172941200	Active TSS	Brain Germinal Matrix	brain
10	chr2:172940800-172944000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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