Variant report

Variant	rs2383002
Chromosome Location	chr9:16687187-16687188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10511624	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10511625	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10733313	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10733314	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10733315	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10733316	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10738445	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10738446	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10738447	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10738448	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10738449	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10756779	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10756781	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10756782	0.83[EUR][1000 genomes]
rs10756783	0.83[EUR][1000 genomes]
rs10756784	0.83[EUR][1000 genomes]
rs10756785	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10756786	0.83[EUR][1000 genomes]
rs10756787	0.81[EUR][1000 genomes]
rs10810590	0.86[ASN][1000 genomes]
rs10810591	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10810592	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10810593	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10962542	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10962546	0.82[EUR][1000 genomes]
rs1888207	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1888208	0.84[EUR][1000 genomes]
rs2026806	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2297174	0.82[EUR][1000 genomes]
rs2297176	0.82[EUR][1000 genomes]
rs2383004	0.83[EUR][1000 genomes]
rs3850444	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3850445	0.82[EUR][1000 genomes]
rs3861709	0.82[EUR][1000 genomes]
rs3904778	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4111334	0.83[EUR][1000 genomes]
rs4111335	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4360380	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4961732	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4961733	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4961734	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4961735	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4961736	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7028900	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv892649	chr9:16677221-16761597	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1030598	chr9:16680138-16696510	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16665000-16704400	Weak transcription	Aorta	Aorta
2	chr9:16679600-16693600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:16679800-16689400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:16679800-16704000	Weak transcription	HSMMtube	muscle
5	chr9:16680000-16688800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:16680000-16688800	Weak transcription	Fetal Muscle Leg	muscle
7	chr9:16680000-16704600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:16681600-16687400	Weak transcription	HSMM	muscle
9	chr9:16681600-16687800	Weak transcription	HUVEC	blood vessel
10	chr9:16681800-16689400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:16682000-16687400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:16682000-16688800	Weak transcription	Fetal Intestine Large	intestine
13	chr9:16682200-16688800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:16682200-16689400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr9:16682600-16687400	Weak transcription	Ovary	ovary
16	chr9:16682600-16689200	Weak transcription	Fetal Stomach	stomach
17	chr9:16682800-16688800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:16683200-16687800	Weak transcription	Fetal Lung	lung
19	chr9:16683200-16687800	Weak transcription	A549	lung
20	chr9:16683400-16689800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr9:16683600-16689000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:16683800-16687200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:16683800-16689400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr9:16684000-16687400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:16684000-16688800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:16684200-16688600	Weak transcription	Colon Smooth Muscle	Colon
27	chr9:16684400-16687200	Weak transcription	NHDF-Ad	bronchial
28	chr9:16684400-16687200	Weak transcription	Osteobl	bone
29	chr9:16684400-16687600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:16684600-16690200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:16685400-16687600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:16685600-16688800	Weak transcription	NH-A	brain
33	chr9:16685800-16688800	Weak transcription	NHLF	lung
34	chr9:16686000-16687400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:16686800-16687600	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr9:16686800-16691200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:16687000-16688200	Enhancers	HUES48 Cell Line	embryonic stem cell

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