Variant report

Variant	rs2383067
Chromosome Location	chr9:18296931-18296932
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10429466	1.00[AMR][1000 genomes]
rs12115643	1.00[AMR][1000 genomes]
rs16936494	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16936614	1.00[AMR][1000 genomes]
rs57198766	1.00[AMR][1000 genomes]
rs58472234	1.00[AMR][1000 genomes]
rs58472530	1.00[AMR][1000 genomes]
rs59656656	1.00[AMR][1000 genomes]
rs59748092	1.00[AMR][1000 genomes]
rs59896837	1.00[AMR][1000 genomes]
rs61439119	1.00[AMR][1000 genomes]
rs61460291	1.00[AMR][1000 genomes]
rs7023801	1.00[AMR][1000 genomes]
rs73643207	1.00[AMR][1000 genomes]
rs73643208	1.00[AMR][1000 genomes]
rs73643210	1.00[AMR][1000 genomes]
rs73643279	1.00[AMR][1000 genomes]
rs73645725	1.00[AMR][1000 genomes]
rs73645742	1.00[AMR][1000 genomes]
rs73645744	1.00[AMR][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	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv892684	chr9:18261485-18401585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1015972	chr9:18272700-18299446	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	nsv892685	chr9:18273100-18302439	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	lncRNA	n/a	inside rSNPs	diseases
7	nsv892686	chr9:18273100-18328341	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	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
9	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18293400-18298600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr9:18294600-18297000	Weak transcription	Adipose Nuclei	Adipose
3	chr9:18294600-18297000	Weak transcription	Fetal Heart	heart
4	chr9:18295400-18297400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:18296600-18297000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:18296600-18297000	Enhancers	HUVEC	blood vessel
7	chr9:18296600-18297000	Enhancers	NHEK	skin
8	chr9:18296600-18297200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:18296600-18297200	Enhancers	HSMMtube	muscle
10	chr9:18296600-18297800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:18296600-18297800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr9:18296600-18297800	Enhancers	Aorta	Aorta
13	chr9:18296600-18297800	Enhancers	HSMM	muscle
14	chr9:18296600-18297800	Enhancers	NHLF	lung
15	chr9:18296600-18298200	Enhancers	HMEC	breast
16	chr9:18296800-18297000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:18296800-18297000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr9:18296800-18297000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr9:18296800-18297000	Enhancers	NH-A	brain
20	chr9:18296800-18297200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr9:18296800-18297200	Flanking Active TSS	NHDF-Ad	bronchial
22	chr9:18296800-18297400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr9:18296800-18297600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr9:18296800-18297600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr9:18296800-18297600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:18296800-18297600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:18296800-18297800	Enhancers	Hela-S3	cervix
28	chr9:18296800-18297800	Flanking Active TSS	Osteobl	bone
29	chr9:18296800-18298000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:18296800-18298000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:18296800-18298200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr9:18296800-18298400	Enhancers	Fetal Lung	lung

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