Variant report

Variant	rs9288075
Chromosome Location	chr2:182683779-182683780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10173295	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs11884530	0.86[YRI][hapmap]
rs11898883	0.86[YRI][hapmap]
rs11904385	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11904481	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs13391116	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13404097	0.86[YRI][hapmap]
rs13412336	0.93[AFR][1000 genomes]
rs13427996	0.83[AMR][1000 genomes]
rs13431885	0.83[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56043868	0.93[AFR][1000 genomes]
rs6759907	1.00[EUR][1000 genomes]
rs73031000	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032618	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv834478	chr2:182654811-182843201	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182676800-182686400	Weak transcription	Pancreas	Pancrea
2	chr2:182680400-182683800	Weak transcription	Placenta	Placenta
3	chr2:182680400-182683800	Weak transcription	Fetal Thymus	thymus
4	chr2:182681200-182683800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:182682200-182685000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:182682200-182695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:182682400-182684200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:182682400-182684200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:182682600-182684200	Enhancers	Fetal Stomach	stomach
10	chr2:182683200-182683800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr2:182683200-182684600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:182683400-182683800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:182683400-182684200	Enhancers	HUVEC	blood vessel
14	chr2:182683600-182683800	Enhancers	Fetal Lung	lung
15	chr2:182683600-182684000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:182683600-182684000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:182683600-182684200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:182683600-182684200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:182683600-182684400	Enhancers	Fetal Kidney	kidney

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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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