Variant report

Variant	rs9953380
Chromosome Location	chr18:9675192-9675193
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000264644	Chromatin interaction
ENSG00000154845	Chromatin interaction
ENSG00000263627	Chromatin interaction
ENSG00000212572	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11874157	0.96[EUR][1000 genomes]
rs2156014	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4570933	0.93[CEU][hapmap]
rs56012533	0.90[EUR][1000 genomes]
rs56280817	0.89[EUR][1000 genomes]
rs56371042	0.91[EUR][1000 genomes]
rs59144355	0.95[ASN][1000 genomes]
rs61389529	0.89[EUR][1000 genomes]
rs62078889	0.95[EUR][1000 genomes]
rs62078890	0.95[EUR][1000 genomes]
rs7241361	0.91[EUR][1000 genomes]
rs7241364	0.91[EUR][1000 genomes]
rs7245113	0.95[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs72955974	0.81[EUR][1000 genomes]
rs72955994	0.89[EUR][1000 genomes]
rs8091319	1.00[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.95[EUR][1000 genomes]
rs8095340	1.00[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv576449	chr18:9623052-9700382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv978600	chr18:9674589-9684440	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9659800-9685400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:9671200-9675200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr18:9673800-9675200	Enhancers	HepG2	liver
4	chr18:9673800-9675400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr18:9673800-9681200	Weak transcription	K562	blood
6	chr18:9673800-9685000	Weak transcription	Spleen	Spleen
7	chr18:9674200-9676000	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr18:9674200-9679400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:9674600-9675200	Enhancers	HSMMtube	muscle
10	chr18:9674800-9675200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9674800-9675200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr18:9675000-9675200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr18:9675000-9675200	Enhancers	Aorta	Aorta
14	chr18:9675000-9675200	Enhancers	Fetal Muscle Leg	muscle
15	chr18:9675000-9675200	Enhancers	Placenta	Placenta
16	chr18:9675000-9675200	Enhancers	Pancreas	Pancrea
17	chr18:9675000-9675200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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