Variant report

Variant	rs10756812
Chromosome Location	chr9:16786303-16786304
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10756811	0.82[CEU][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10810611	0.82[MEX][hapmap]
rs10810616	0.95[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes]
rs10810619	0.86[GIH][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes]
rs10810628	1.00[CEU][hapmap];0.87[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10810629	1.00[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10810638	1.00[LWK][hapmap]
rs10962570	0.93[AMR][1000 genomes]
rs10962572	0.88[AMR][1000 genomes]
rs10962573	0.89[AMR][1000 genomes]
rs10962582	0.86[CEU][hapmap];0.90[GIH][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10962585	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10962590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10962596	0.86[AFR][1000 genomes]
rs10962597	0.86[AFR][1000 genomes]
rs10962599	0.84[ASW][hapmap];0.81[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.86[AFR][1000 genomes]
rs10962600	0.86[AFR][1000 genomes]
rs10962612	0.81[GIH][hapmap];0.86[AFR][1000 genomes]
rs11789463	1.00[LWK][hapmap]
rs11793056	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11793537	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11795031	1.00[ASW][hapmap];0.90[CEU][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12343424	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12344347	0.82[CEU][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12344799	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12345910	0.86[AFR][1000 genomes]
rs12353453	0.82[CEU][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13294647	0.93[AMR][1000 genomes]
rs13299347	0.82[AMR][1000 genomes]
rs1330299	0.82[AMR][1000 genomes]
rs2026804	0.84[ASW][hapmap];0.84[GIH][hapmap];0.86[AFR][1000 genomes]
rs2026805	0.86[AFR][1000 genomes]
rs4433240	0.86[AFR][1000 genomes]
rs4623533	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56343038	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs944207	0.91[AMR][1000 genomes]
rs9987471	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10756812	KIAA1797	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16754000-16787000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr9:16762600-16786800	Weak transcription	NHLF	lung
3	chr9:16767600-16795400	Weak transcription	Fetal Muscle Leg	muscle
4	chr9:16768000-16795000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:16769800-16787600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:16769800-16795400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:16770000-16786600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:16773000-16795000	Weak transcription	HSMMtube	muscle
9	chr9:16774200-16787400	Weak transcription	NH-A	brain
10	chr9:16776000-16786600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:16776000-16787600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr9:16776200-16787400	Weak transcription	Osteobl	bone
13	chr9:16778400-16787400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr9:16778800-16787200	Weak transcription	NHDF-Ad	bronchial
15	chr9:16779000-16787200	Weak transcription	Psoas Muscle	Psoas
16	chr9:16782800-16787400	Weak transcription	HUVEC	blood vessel
17	chr9:16783000-16786800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:16783400-16787400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr9:16784400-16802200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr9:16784600-16787400	Weak transcription	HSMM	muscle
21	chr9:16785000-16786800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:16785000-16786800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:16785000-16792200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr9:16785200-16786600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr9:16785200-16786600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:16785200-16794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:16785400-16786400	Weak transcription	Colon Smooth Muscle	Colon
28	chr9:16785400-16786800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:16785400-16787000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:16785800-16787000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr9:16786000-16786400	Weak transcription	Ovary	ovary
32	chr9:16786000-16787600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:16786000-16795600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr9:16786200-16786600	Weak transcription	Fetal Stomach	stomach
35	chr9:16786200-16787200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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