Variant report

Variant	rs2678915
Chromosome Location	chr2:58119574-58119575
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	chr2:58118375..58121623-chr2:58123563..58127574,4	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs1040224	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1040225	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10496078	0.82[EUR][1000 genomes]
rs10496079	0.81[EUR][1000 genomes]
rs10865304	0.82[EUR][1000 genomes]
rs11898858	0.83[EUR][1000 genomes]
rs12713358	0.83[EUR][1000 genomes]
rs12990792	0.82[EUR][1000 genomes]
rs1356544	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1356545	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401100	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1402398	0.84[EUR][1000 genomes]
rs1518393	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1518394	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1568253	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1568254	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1568450	0.84[EUR][1000 genomes]
rs1589407	0.84[EUR][1000 genomes]
rs2090793	0.84[EUR][1000 genomes]
rs2139053	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2139054	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2176546	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2312141	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2312147	0.81[ASN][1000 genomes]
rs2465804	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678881	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2678889	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678890	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678891	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678896	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678897	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2678901	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678903	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678904	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2678905	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2678906	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2678908	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2678910	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2683614	0.84[EUR][1000 genomes]
rs2683616	0.84[EUR][1000 genomes]
rs2683619	0.84[EUR][1000 genomes]
rs2683620	0.84[EUR][1000 genomes]
rs2683628	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2683629	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2683634	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717001	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2717002	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2717003	0.89[EUR][1000 genomes]
rs2717004	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2717006	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717007	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2717015	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717018	0.84[EUR][1000 genomes]
rs2717027	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2717031	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717032	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717035	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2717036	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717040	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717041	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2717048	0.83[EUR][1000 genomes]
rs2717056	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2717063	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2717068	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2717075	0.84[EUR][1000 genomes]
rs28718871	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2953439	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2953441	0.84[EUR][1000 genomes]
rs4672223	0.84[EUR][1000 genomes]
rs6545663	0.84[EUR][1000 genomes]
rs6545664	0.84[EUR][1000 genomes]
rs6545665	0.84[EUR][1000 genomes]
rs6730037	0.83[EUR][1000 genomes]
rs6737913	0.81[EUR][1000 genomes]
rs6756221	0.84[EUR][1000 genomes]
rs6761347	0.84[EUR][1000 genomes]
rs7561842	0.82[EUR][1000 genomes]
rs7598169	0.84[EUR][1000 genomes]
rs908730	0.83[EUR][1000 genomes]
rs970941	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv1007118	chr2:57562051-58147588	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv874196	chr2:57946148-58220320	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1010981	chr2:58013389-58205699	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv874199	chr2:58031249-58161520	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58117000-58122000	Enhancers	Fetal Brain Male	brain
2	chr2:58117200-58119800	Enhancers	GM12878-XiMat	blood
3	chr2:58117400-58121200	Enhancers	Fetal Intestine Small	intestine
4	chr2:58118200-58120400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:58118400-58120800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:58118600-58119800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:58118600-58120000	Weak transcription	A549	lung
8	chr2:58118800-58120200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:58119000-58120200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:58119400-58120200	Weak transcription	Fetal Brain Female	brain
11	chr2:58119400-58124800	Weak transcription	Fetal Intestine Large	intestine

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