Variant report

Variant	rs288046
Chromosome Location	chr2:210378788-210378789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:210352493..210354448-chr2:210377113..210379529,2	K562	blood:
2	chr2:210372196..210374156-chr2:210376464..210379426,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10173260	0.98[ASN][1000 genomes]
rs10208979	0.90[ASN][1000 genomes]
rs1031461	0.92[ASN][1000 genomes]
rs10737939	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10737940	0.90[ASN][1000 genomes]
rs11686346	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687844	0.93[ASN][1000 genomes]
rs11896762	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12052799	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12053460	0.90[ASN][1000 genomes]
rs16843034	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2123700	0.95[ASN][1000 genomes]
rs2198475	0.95[ASN][1000 genomes]
rs2198476	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2198477	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2198478	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2219085	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2365657	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365658	0.91[ASN][1000 genomes]
rs288062	0.93[ASN][1000 genomes]
rs288064	0.93[ASN][1000 genomes]
rs288065	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs288067	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs288068	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886435	0.90[ASN][1000 genomes]
rs2886436	0.93[ASN][1000 genomes]
rs4672554	0.91[ASN][1000 genomes]
rs4673481	0.90[ASN][1000 genomes]
rs4673482	0.91[ASN][1000 genomes]
rs6435530	0.92[ASN][1000 genomes]
rs6435531	0.92[ASN][1000 genomes]
rs6728378	0.91[ASN][1000 genomes]
rs6738205	0.90[ASN][1000 genomes]
rs6740822	0.94[ASN][1000 genomes]
rs7559831	0.99[ASN][1000 genomes]
rs7561678	0.95[ASN][1000 genomes]
rs7562585	0.99[ASN][1000 genomes]
rs7568354	0.90[ASN][1000 genomes]
rs7574854	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7580512	0.89[ASN][1000 genomes]
rs7586196	0.93[ASN][1000 genomes]
rs7593377	0.91[ASN][1000 genomes]
rs7601095	0.91[ASN][1000 genomes]
rs852734	0.91[ASN][1000 genomes]
rs9288409	0.95[ASN][1000 genomes]
rs997109	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr2:210364600-210387600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:210364600-210392200	Weak transcription	Pancreas	Pancrea
3	chr2:210366600-210387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:210371400-210391000	Weak transcription	Aorta	Aorta
5	chr2:210372800-210381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210373000-210380000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:210377400-210378800	Enhancers	Fetal Brain Male	brain
8	chr2:210377400-210378800	Enhancers	Fetal Brain Female	brain
9	chr2:210377600-210378800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:210378000-210380200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:210378000-210384000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:210378400-210378800	Enhancers	Brain Germinal Matrix	brain

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