Variant report

Variant	rs2084460
Chromosome Location	chr5:118312411-118312412
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	chr5:118311467..118314093-chr5:118314485..118317147,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10519564	1.00[CHB][hapmap]
rs11959589	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12109156	1.00[CHB][hapmap]
rs12109252	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1448479	1.00[JPT][hapmap]
rs1510971	1.00[CHB][hapmap]
rs17132677	1.00[CHB][hapmap]
rs17144714	1.00[JPT][hapmap]
rs17144824	1.00[CHB][hapmap]
rs17144836	1.00[CHB][hapmap]
rs17144872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144877	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144883	0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144885	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17144893	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17381247	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17440213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2029036	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2115301	1.00[JPT][hapmap]
rs2217310	1.00[CHB][hapmap]
rs2377127	1.00[CHB][hapmap]
rs34671950	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3813297	1.00[JPT][hapmap]
rs3813298	1.00[JPT][hapmap]
rs4392657	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs4634381	1.00[CHB][hapmap]
rs4895184	1.00[JPT][hapmap]
rs4895353	1.00[JPT][hapmap]
rs4895354	1.00[JPT][hapmap]
rs55741500	0.92[ASN][1000 genomes]
rs55805551	0.92[ASN][1000 genomes]
rs55811049	0.88[EUR][1000 genomes]
rs55968902	0.93[EUR][1000 genomes]
rs56664193	0.92[ASN][1000 genomes]
rs6860946	1.00[CHB][hapmap]
rs6862297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6863802	1.00[CHB][hapmap]
rs6870923	1.00[CHB][hapmap]
rs6874399	1.00[CHB][hapmap]
rs6880144	1.00[CHB][hapmap]
rs6892437	1.00[CHB][hapmap]
rs72784039	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73240722	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7706037	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7710339	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7719250	0.84[EUR][1000 genomes]
rs7721907	0.84[CEU][hapmap]
rs7723221	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724403	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7724753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7734815	1.00[CHB][hapmap]
rs7737716	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1017548	chr5:118276479-118358394	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1015878	chr5:118288904-118414706	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537881	chr5:118288904-118414706	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv964930	chr5:118301974-118317943	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2084460	DTWD2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118296800-118314400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:118304600-118321600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr5:118305200-118320400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:118305200-118322400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:118308800-118314400	Weak transcription	Aorta	Aorta
6	chr5:118309600-118323000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr5:118310800-118320800	Weak transcription	Hela-S3	cervix
8	chr5:118311400-118316000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:118311400-118322800	Weak transcription	Primary B cells from peripheral blood	blood

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