Variant report

Variant	rs72690565
Chromosome Location	chr9:18787656-18787657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2289004	0.88[EUR][1000 genomes]
rs2289006	0.93[ASN][1000 genomes]
rs2289007	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41268983	0.93[ASN][1000 genomes]
rs45579937	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4977432	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4977440	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55845470	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56235899	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs715212	0.96[ASN][1000 genomes]
rs72690557	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690558	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72690561	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72690567	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72690576	0.87[EUR][1000 genomes]
rs72690578	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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 miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv525887	chr9:18778319-18791355	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18778000-18798200	Weak transcription	Aorta	Aorta
2	chr9:18778400-18817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:18778600-18796000	Weak transcription	NHLF	lung
4	chr9:18779800-18796200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:18780200-18789800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:18780200-18795200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:18785000-18788000	Enhancers	HUVEC	blood vessel
8	chr9:18785000-18788200	Enhancers	Fetal Stomach	stomach
9	chr9:18785200-18788000	Enhancers	Fetal Heart	heart
10	chr9:18785400-18788200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:18785400-18788800	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:18785400-18789200	Enhancers	Adipose Nuclei	Adipose
13	chr9:18785600-18787800	Enhancers	Fetal Lung	lung
14	chr9:18785600-18788200	Enhancers	Colon Smooth Muscle	Colon
15	chr9:18785600-18788800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr9:18785800-18788000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr9:18785800-18789000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:18786000-18788000	Enhancers	Ovary	ovary
19	chr9:18786200-18788400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr9:18786200-18788400	Enhancers	Osteobl	bone
21	chr9:18786400-18788000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr9:18786400-18796000	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:18786600-18788200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr9:18786600-18788800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:18787000-18788400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:18787000-18788600	Enhancers	HSMM	muscle
27	chr9:18787200-18788200	Enhancers	HSMMtube	muscle
28	chr9:18787400-18788600	Enhancers	NH-A	brain
29	chr9:18787400-18789600	Weak transcription	NHDF-Ad	bronchial
30	chr9:18787600-18787800	Enhancers	Stomach Smooth Muscle	stomach
31	chr9:18787600-18789200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:18787600-18796200	Weak transcription	Left Ventricle	heart

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