Variant report

Variant	rs2060364
Chromosome Location	chr9:18780615-18780616
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12003172	1.00[AMR][1000 genomes]
rs16936958	1.00[AMR][1000 genomes]
rs16936960	1.00[AMR][1000 genomes]
rs16936963	1.00[AMR][1000 genomes]
rs16937061	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs56016185	0.98[AFR][1000 genomes]
rs62552760	1.00[AMR][1000 genomes]
rs6475238	1.00[AMR][1000 genomes]
rs67503152	1.00[AMR][1000 genomes]
rs7024835	1.00[AMR][1000 genomes]
rs7046895	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs728362	1.00[AMR][1000 genomes]
rs73419070	0.98[AFR][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18756800-18787200	Weak transcription	HSMMtube	muscle
2	chr9:18764000-18781000	Strong transcription	Osteobl	bone
3	chr9:18771000-18781600	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr9:18772200-18785600	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:18772800-18781000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr9:18773000-18786200	Weak transcription	Right Ventricle	heart
7	chr9:18776400-18786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:18777000-18784000	Weak transcription	Adipose Nuclei	Adipose
9	chr9:18777200-18786400	Weak transcription	Fetal Intestine Small	intestine
10	chr9:18777800-18786200	Strong transcription	HSMM	muscle
11	chr9:18778000-18782600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:18778000-18798200	Weak transcription	Aorta	Aorta
13	chr9:18778400-18786000	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:18778400-18817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:18778600-18785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr9:18778600-18796000	Weak transcription	NHLF	lung
17	chr9:18779400-18785200	Weak transcription	Fetal Heart	heart
18	chr9:18779600-18781200	Weak transcription	HUVEC	blood vessel
19	chr9:18779600-18781800	Weak transcription	NHDF-Ad	bronchial
20	chr9:18779600-18783600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:18779800-18786200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:18779800-18796200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr9:18780200-18781400	Weak transcription	NH-A	brain
24	chr9:18780200-18785000	Weak transcription	Fetal Stomach	stomach
25	chr9:18780200-18789800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr9:18780200-18795200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:18780600-18781000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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