Variant report

Variant	rs354195
Chromosome Location	chr2:54965324-54965325
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	chr2:54964880..54967279-chr2:54967947..54971334,3	K562	blood:
2	chr2:54964880..54967321-chr2:54967947..54972179,4	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10180713	1.00[YRI][hapmap]
rs1047499	1.00[YRI][hapmap]
rs11892788	1.00[YRI][hapmap]
rs11898012	1.00[YRI][hapmap]
rs12105792	1.00[YRI][hapmap]
rs13016942	1.00[YRI][hapmap]
rs13399435	1.00[YRI][hapmap]
rs168503	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs168507	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs168508	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17416806	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs181348	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1821138	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1864493	1.00[YRI][hapmap]
rs187124	0.83[EUR][1000 genomes]
rs191628	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2941586	1.00[YRI][hapmap]
rs2941587	1.00[YRI][hapmap]
rs2941595	1.00[YRI][hapmap]
rs2971877	1.00[YRI][hapmap]
rs2971879	1.00[YRI][hapmap]
rs2971889	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs354197	0.88[EUR][1000 genomes]
rs354200	0.84[EUR][1000 genomes]
rs354201	0.84[EUR][1000 genomes]
rs354209	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs354214	0.83[EUR][1000 genomes]
rs354231	0.81[CHB][hapmap]
rs354236	0.87[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354237	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354238	0.91[CHB][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs354243	0.82[EUR][1000 genomes]
rs4671225	1.00[YRI][hapmap]
rs4671226	1.00[YRI][hapmap]
rs4671956	1.00[YRI][hapmap]
rs58175244	0.81[ASN][1000 genomes]
rs6545427	1.00[YRI][hapmap]
rs6545429	1.00[YRI][hapmap]
rs6545434	1.00[YRI][hapmap]
rs6732949	1.00[YRI][hapmap]
rs6761369	1.00[YRI][hapmap]

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv582025	chr2:54960680-54973834	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs354195	EML6	cis	Artery Tibial	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54963200-54965800	Weak transcription	Aorta	Aorta
2	chr2:54964800-54965400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:54964800-54967200	Enhancers	Pancreas	Pancrea
4	chr2:54964800-54969600	Enhancers	HepG2	liver
5	chr2:54965000-54965400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:54965200-54966000	Weak transcription	Fetal Intestine Small	intestine

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