Variant report

Variant	rs1953032
Chromosome Location	chr9:21508691-21508692
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10811560	0.81[EUR][1000 genomes]
rs10965028	0.81[EUR][1000 genomes]
rs13283527	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13283671	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1332182	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1332186	0.81[EUR][1000 genomes]
rs1332187	0.80[EUR][1000 genomes]
rs1360526	0.82[EUR][1000 genomes]
rs1412392	0.86[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1412393	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1537275	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1537279	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2210436	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4246868	0.80[EUR][1000 genomes]
rs4258083	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7848909	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7856413	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7856647	0.83[AMR][1000 genomes];0.88[ASN][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	nsv892724	chr9:20690244-21517302	Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
2	nsv1030064	chr9:21455760-21524674	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	111 gene(s)	inside rSNPs	diseases
3	nsv1020445	chr9:21464962-21524162	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	109 gene(s)	inside rSNPs	diseases
4	nsv1020232	chr9:21464962-21524999	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
5	nsv892740	chr9:21471499-21551513	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA miRNA	110 gene(s)	inside rSNPs	diseases
6	nsv1031432	chr9:21472601-21608774	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
7	nsv540085	chr9:21472601-21608774	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	122 gene(s)	inside rSNPs	diseases
8	esv2757326	chr9:21499624-21526526	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region miRNA	105 gene(s)	inside rSNPs	diseases
9	esv2759680	chr9:21499624-21526526	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region miRNA	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:21466000-21527600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:21494800-21527600	Weak transcription	Gastric	stomach
3	chr9:21503600-21509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:21503800-21509000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:21504800-21509400	Enhancers	NH-A	brain
6	chr9:21504800-21509400	Enhancers	NHDF-Ad	bronchial
7	chr9:21504800-21509800	Enhancers	NHEK	skin
8	chr9:21504800-21510200	Enhancers	HMEC	breast
9	chr9:21505000-21510200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr9:21505200-21510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr9:21505600-21509400	Enhancers	HUVEC	blood vessel
12	chr9:21505800-21509400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:21507000-21508800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:21507200-21516800	Weak transcription	Small Intestine	intestine
15	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:21507400-21509200	Enhancers	Osteobl	bone
17	chr9:21507400-21527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:21507600-21509000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:21507600-21510000	Weak transcription	Hela-S3	cervix
20	chr9:21507800-21509000	Enhancers	Duodenum Mucosa	Duodenum
21	chr9:21508000-21509200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr9:21508000-21511600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:21508000-21511600	Weak transcription	HSMM	muscle
24	chr9:21508000-21542000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:21508200-21511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr9:21508200-21511600	Weak transcription	NHLF	lung
27	chr9:21508200-21511800	Weak transcription	Placenta	Placenta
28	chr9:21508200-21523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:21508200-21527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:21508200-21527600	Weak transcription	Fetal Intestine Small	intestine
31	chr9:21508400-21512000	Genic enhancers	A549	lung
32	chr9:21508600-21509400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:21508600-21517600	Weak transcription	Fetal Intestine Large	intestine

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