Variant report

Variant	rs6694590
Chromosome Location	chr1:45837793-45837794
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	chr1:45811327..45813389-chr1:45835380..45837903,2	K562	blood:
2	chr1:45837055..45840025-chr1:45851538..45853151,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11803788	1.00[AMR][1000 genomes]
rs11808204	1.00[AMR][1000 genomes]
rs55680990	1.00[AMR][1000 genomes]
rs55812863	1.00[AMR][1000 genomes]
rs59796793	1.00[AMR][1000 genomes]
rs60136496	1.00[AMR][1000 genomes]
rs61281143	1.00[AMR][1000 genomes]
rs61325888	1.00[AMR][1000 genomes]
rs6659464	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6661693	1.00[AMR][1000 genomes]
rs6665790	1.00[AMR][1000 genomes]
rs6691750	1.00[AMR][1000 genomes]
rs72892506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72892519	1.00[AMR][1000 genomes]
rs72892536	1.00[AMR][1000 genomes]
rs72892538	1.00[AMR][1000 genomes]
rs72892542	1.00[AMR][1000 genomes]
rs72894320	1.00[AMR][1000 genomes]
rs72894327	1.00[AMR][1000 genomes]
rs72894331	1.00[AMR][1000 genomes]
rs72894333	1.00[AMR][1000 genomes]
rs72894338	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72894353	1.00[AMR][1000 genomes]
rs72896187	1.00[AMR][1000 genomes]
rs7514911	1.00[AMR][1000 genomes]
rs7536005	1.00[AMR][1000 genomes]
rs7538197	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	esv1795802	chr1:45819489-46009818	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
8	esv1831217	chr1:45819489-46009818	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45826200-45867200	Weak transcription	Fetal Intestine Small	intestine
2	chr1:45827000-45859000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:45827200-45842000	Weak transcription	Right Atrium	heart
4	chr1:45827600-45839400	Weak transcription	Liver	Liver
5	chr1:45828000-45839200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:45834200-45841200	Weak transcription	Aorta	Aorta
7	chr1:45836800-45839200	Weak transcription	Primary B cells from cord blood	blood
8	chr1:45837000-45839200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr1:45837200-45837800	Enhancers	GM12878-XiMat	blood
10	chr1:45837200-45839400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr1:45837200-45849800	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:45837400-45839400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:45837600-45840600	Weak transcription	Small Intestine	intestine

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