Variant report

Variant	rs73422483
Chromosome Location	chr9:21516672-21516673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:21516536-21518818	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr9:21515900-21530251	A549	lung:	n/a	n/a
3	POLR2A	chr9:21516428-21517092	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr9:21516566-21534519	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
MIR31	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

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]
rs57966599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60100518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60154937	0.94[AFR][1000 genomes]
rs60587038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61247654	1.00[AFR][1000 genomes]
rs7037366	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422467	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73422479	0.85[AFR][1000 genomes]
rs73422482	0.82[AFR][1000 genomes]
rs73422489	1.00[AFR][1000 genomes]
rs73422494	1.00[AFR][1000 genomes]
rs73422499	1.00[AFR][1000 genomes]
rs73424369	1.00[AFR][1000 genomes]
rs73424370	0.97[AFR][1000 genomes]
rs73424372	1.00[AFR][1000 genomes]
rs73424374	1.00[AFR][1000 genomes]
rs73424377	1.00[AFR][1000 genomes]
rs7866421	1.00[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:31 , 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	chr9:21507200-21516800	Weak transcription	Small Intestine	intestine
4	chr9:21507200-21551400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:21507400-21527200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:21508000-21542000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:21508200-21523200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:21508200-21527600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr9:21508200-21527600	Weak transcription	Fetal Intestine Small	intestine
10	chr9:21508600-21517600	Weak transcription	Fetal Intestine Large	intestine
11	chr9:21510400-21527600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr9:21512200-21517600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:21512200-21517600	Weak transcription	NH-A	brain
14	chr9:21512200-21526400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr9:21512200-21526600	Weak transcription	HSMM	muscle
16	chr9:21512800-21527000	Weak transcription	NHLF	lung
17	chr9:21513000-21526600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:21514400-21516800	Weak transcription	NHEK	skin
19	chr9:21514400-21519000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:21514400-21527000	Weak transcription	Hela-S3	cervix
21	chr9:21514600-21516800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:21514600-21517800	Enhancers	NHDF-Ad	bronchial
23	chr9:21514600-21519400	Weak transcription	HUVEC	blood vessel
24	chr9:21515000-21518400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:21515600-21519000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr9:21516000-21518600	Genic enhancers	A549	lung
27	chr9:21516200-21517000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:21516200-21520200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:21516600-21516800	Enhancers	Stomach Mucosa	stomach
30	chr9:21516600-21519000	Strong transcription	HMEC	breast
31	chr9:21516600-21519000	Strong transcription	Osteobl	bone

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