Variant report

Variant	rs2930728
Chromosome Location	chr9:7657162-7657163
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:11)

rs_ID	r²[population]
rs2046426	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2930714	0.85[EUR][1000 genomes]
rs2930718	0.81[EUR][1000 genomes]
rs2930723	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2930729	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2930730	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3005750	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs3005757	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3005759	0.86[ASN][1000 genomes]
rs3005760	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3005761	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34566	chr9:7291742-7781370	Enhancers Active TSS Flanking Active TSS Weak transcription 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
2	nsv818681	chr9:7292836-7781365	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1033077	chr9:7358832-7990735	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv539977	chr9:7358832-7990735	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1029032	chr9:7431547-7764888	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1028504	chr9:7523311-7682789	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv539978	chr9:7523311-7682789	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv892201	chr9:7524075-7742476	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1015795	chr9:7540787-7701648	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv613266	chr9:7588854-7901308	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv892206	chr9:7641251-7682601	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a
12	nsv613267	chr9:7649442-7684552	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7656400-7657200	Enhancers	Fetal Heart	heart
2	chr9:7656400-7657400	Enhancers	Brain Cingulate Gyrus	brain
3	chr9:7656400-7658000	Enhancers	HUVEC	blood vessel
4	chr9:7656600-7657200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr9:7656600-7657200	Enhancers	Fetal Muscle Leg	muscle
6	chr9:7656600-7657200	Enhancers	Pancreas	Pancrea
7	chr9:7656600-7657200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr9:7656600-7657200	Enhancers	Stomach Mucosa	stomach
9	chr9:7656600-7657400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:7656600-7657400	Enhancers	Right Ventricle	heart
11	chr9:7656800-7657200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:7656800-7657200	Enhancers	Left Ventricle	heart
13	chr9:7656800-7657200	Enhancers	Ovary	ovary
14	chr9:7656800-7657200	Enhancers	Spleen	Spleen
15	chr9:7656800-7657400	Enhancers	Brain Anterior Caudate	brain
16	chr9:7656800-7657400	Enhancers	Brain Substantia Nigra	brain
17	chr9:7657000-7657200	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr9:7657000-7657200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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