Variant report

Variant	rs10993530
Chromosome Location	chr9:98151810-98151811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10993533	0.88[ASN][1000 genomes]
rs12235126	0.85[ASN][1000 genomes]
rs28406105	0.81[ASN][1000 genomes]
rs28454710	0.81[ASN][1000 genomes]
rs28522014	0.82[ASN][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	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1045479	chr9:98115290-98172995	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv968734	chr9:98150550-98153383	Weak transcription Enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98144000-98172400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:98146600-98168400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:98148400-98152000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:98148400-98152000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:98150400-98154000	Weak transcription	Fetal Stomach	stomach
6	chr9:98150600-98173600	Weak transcription	Fetal Intestine Small	intestine
7	chr9:98151800-98152200	Enhancers	HSMMtube	muscle
8	chr9:98151800-98152400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:98151800-98152400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr9:98151800-98152400	Enhancers	A549	lung

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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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