Variant report

Variant	rs4653513
Chromosome Location	chr1:227749339-227749340
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10159323	1.00[AMR][1000 genomes]
rs10916168	1.00[AMR][1000 genomes]
rs1390402	1.00[AMR][1000 genomes]
rs1817929	1.00[AMR][1000 genomes]
rs1826774	1.00[AMR][1000 genomes]
rs1874372	1.00[AMR][1000 genomes]
rs2313246	1.00[AMR][1000 genomes]
rs2492633	1.00[AMR][1000 genomes]
rs2644142	1.00[AMR][1000 genomes]
rs2814062	1.00[AMR][1000 genomes]
rs2819497	1.00[AMR][1000 genomes]
rs2935148	1.00[AMR][1000 genomes]
rs2935151	1.00[AMR][1000 genomes]
rs2999738	1.00[AMR][1000 genomes]
rs2999747	1.00[AMR][1000 genomes]
rs3010184	1.00[AMR][1000 genomes]
rs6426466	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426467	1.00[AMR][1000 genomes]
rs6662898	1.00[AMR][1000 genomes]
rs7521659	1.00[AMR][1000 genomes]
rs7540705	1.00[AMR][1000 genomes]
rs903696	1.00[AMR][1000 genomes]
rs976960	1.00[AMR][1000 genomes]
rs9943170	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv947520	chr1:227724042-227750192	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv947560	chr1:227726600-227750192	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	esv3338615	chr1:227738421-227798486	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv3327012	chr1:227741102-227890968	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr1:227746400-227751200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
2	chr1:227746600-227749800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:227747800-227750000	Enhancers	Pancreas	Pancrea
4	chr1:227748000-227749800	ZNF genes & repeats	Spleen	Spleen
5	chr1:227748200-227750800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:227748400-227749400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:227748600-227750800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:227749000-227750800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:227749000-227750800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:227749000-227750800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr1:227749000-227750800	Weak transcription	Right Atrium	heart
12	chr1:227749200-227750800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links