Variant report

Variant	rs57966599
Chromosome Location	chr9:21507599-21507600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10124875	1.00[AMR][1000 genomes]
rs12004228	1.00[AMR][1000 genomes]
rs12006130	1.00[AMR][1000 genomes]
rs56892246	1.00[AMR][1000 genomes]
rs60100518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60154937	0.89[AFR][1000 genomes]
rs60587038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61247654	0.94[AFR][1000 genomes]
rs7037366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422483	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422489	0.94[AFR][1000 genomes]
rs73422494	0.94[AFR][1000 genomes]
rs73422499	0.94[AFR][1000 genomes]
rs73424369	0.94[AFR][1000 genomes]
rs73424370	0.92[AFR][1000 genomes]
rs73424372	0.94[AFR][1000 genomes]
rs73424374	0.94[AFR][1000 genomes]
rs73424377	0.94[AFR][1000 genomes]
rs7866421	0.94[AFR][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:36 , 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	chr9:21503600-21508000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:21503600-21509400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:21503800-21509000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:21504200-21507800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:21504200-21507800	Weak transcription	Placenta	Placenta
8	chr9:21504800-21508200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:21504800-21508600	Enhancers	Fetal Intestine Large	intestine
10	chr9:21504800-21509400	Enhancers	NH-A	brain
11	chr9:21504800-21509400	Enhancers	NHDF-Ad	bronchial
12	chr9:21504800-21509800	Enhancers	NHEK	skin
13	chr9:21504800-21510200	Enhancers	HMEC	breast
14	chr9:21505000-21507600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:21505000-21508200	Enhancers	NHLF	lung
16	chr9:21505000-21510200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr9:21505200-21508000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:21505200-21510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr9:21505400-21508000	Enhancers	HSMM	muscle
20	chr9:21505600-21508400	Enhancers	A549	lung
21	chr9:21505600-21509400	Enhancers	HUVEC	blood vessel
22	chr9:21505800-21509400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr9:21506200-21508200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr9:21506600-21508000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:21506800-21507600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr9:21506800-21507600	Enhancers	Stomach Mucosa	stomach
27	chr9:21506800-21507600	Enhancers	Hela-S3	cervix
28	chr9:21506800-21507800	Weak transcription	Fetal Intestine Small	intestine
29	chr9:21507000-21508800	Enhancers	Placenta Amnion	Placenta Amnion
30	chr9:21507200-21507600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:21507200-21508200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:21507200-21516800	Weak transcription	Small Intestine	intestine
33	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr9:21507400-21507800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr9:21507400-21509200	Enhancers	Osteobl	bone
36	chr9:21507400-21527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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