Variant report

Variant	rs4448381
Chromosome Location	chr9:16802531-16802532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10810636	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962596	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10962597	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10962599	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962600	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10962605	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10962612	0.89[CEU][hapmap];0.81[GIH][hapmap];0.90[MEX][hapmap];0.92[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12345910	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12375569	0.92[ASW][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2026804	1.00[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2026805	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2254330	0.89[CEU][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4433240	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.91[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	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv2758627	chr9:16641966-16809203	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2759673	chr9:16641966-16809203	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv892650	chr9:16696187-16950860	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv613671	chr9:16792350-16804082	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv518608	chr9:16800341-16804082	Weak transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4448381	KIAA1797	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16796200-16803800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:16796200-16810400	Weak transcription	HSMM	muscle
3	chr9:16796200-16813400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:16796200-16816800	Weak transcription	HSMMtube	muscle
5	chr9:16796400-16824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:16796600-16809000	Weak transcription	Osteobl	bone
7	chr9:16798000-16809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:16799200-16813200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:16801000-16803200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:16801000-16803400	Enhancers	Colon Smooth Muscle	Colon
11	chr9:16801400-16803000	Enhancers	Fetal Stomach	stomach
12	chr9:16801400-16805000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:16801600-16805400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:16801800-16802600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:16801800-16802800	Enhancers	Rectal Smooth Muscle	rectum
16	chr9:16801800-16804800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr9:16802000-16802600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:16802000-16803400	Enhancers	Ovary	ovary
19	chr9:16802000-16803800	Enhancers	NHLF	lung
20	chr9:16802000-16804600	Enhancers	H9 Cell Line	embryonic stem cell
21	chr9:16802000-16804600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr9:16802200-16802600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:16802200-16802600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:16802200-16802800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:16802200-16803000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:16802200-16803200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr9:16802200-16804600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:16802200-16804600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr9:16802200-16804800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:16802400-16802600	Flanking Active TSS	Fetal Lung	lung
31	chr9:16802400-16802600	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr9:16802400-16802800	Enhancers	Aorta	Aorta

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