Variant report

Variant	rs2026804
Chromosome Location	chr9:16800341-16800342
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10756812	0.84[ASW][hapmap];0.84[GIH][hapmap];0.86[AFR][1000 genomes]
rs10810636	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10962582	0.80[GIH][hapmap]
rs10962590	0.86[AFR][1000 genomes]
rs10962596	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10962597	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10962599	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10962600	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10962605	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10962612	0.89[CEU][hapmap];0.97[GIH][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11795031	0.84[ASW][hapmap];0.87[GIH][hapmap];0.86[AFR][1000 genomes]
rs12345910	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12375569	0.95[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2026805	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2254330	0.89[CEU][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4433240	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4448381	1.00[CEU][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.94[AMR][1000 genomes];0.89[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
rs2026804	KIAA1797	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16784400-16802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr9:16796200-16801400	Weak transcription	Fetal Stomach	stomach
3	chr9:16796200-16801400	Weak transcription	Ovary	ovary
4	chr9:16796200-16801400	Weak transcription	NHLF	lung
5	chr9:16796200-16803800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:16796200-16810400	Weak transcription	HSMM	muscle
7	chr9:16796200-16813400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr9:16796200-16816800	Weak transcription	HSMMtube	muscle
9	chr9:16796400-16802200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:16796400-16824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:16796600-16802200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:16796600-16809000	Weak transcription	Osteobl	bone
13	chr9:16797600-16802200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:16798000-16801400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:16798000-16802000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr9:16798000-16809600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:16798200-16802200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:16798200-16802200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:16798800-16800400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:16799000-16800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:16799200-16800800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:16799200-16801000	Weak transcription	Colon Smooth Muscle	Colon
23	chr9:16799200-16801800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr9:16799200-16802000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:16799200-16802200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:16799200-16813200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:16799800-16801600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:16800200-16800600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:16800200-16800800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:16800200-16801000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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