Variant report

Variant	rs9932982
Chromosome Location	chr16:75359835-75359836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10438605	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11149817	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12149472	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12149940	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12444789	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12445803	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12716785	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12918234	0.86[ASN][1000 genomes]
rs12919055	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12921808	1.00[ASN][1000 genomes]
rs12926447	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928461	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12935491	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13337069	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13339257	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17605695	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17674216	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2285221	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2550325	1.00[ASN][1000 genomes]
rs2550916	1.00[ASN][1000 genomes]
rs2650408	1.00[ASN][1000 genomes]
rs2650409	1.00[ASN][1000 genomes]
rs28368934	0.90[ASN][1000 genomes]
rs28371085	0.84[EUR][1000 genomes]
rs28510780	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28525459	0.93[ASN][1000 genomes]
rs34532060	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35255668	0.86[EUR][1000 genomes]
rs4081763	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383172	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715607	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55719515	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59800961	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60544814	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6625	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71380715	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7184596	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7185880	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7186825	0.93[ASN][1000 genomes]
rs7188111	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7189037	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7206589	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7206780	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs729109	0.93[ASN][1000 genomes]
rs8046261	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8047147	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8047983	0.93[ASN][1000 genomes]
rs8048683	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050367	0.89[ASN][1000 genomes]
rs8051151	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051238	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052405	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8052555	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054557	0.89[ASN][1000 genomes]
rs8055098	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8056345	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056473	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8057652	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8057925	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8059427	0.93[ASN][1000 genomes]
rs8059883	0.93[ASN][1000 genomes]
rs8060338	0.93[ASN][1000 genomes]
rs8063733	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9319483	1.00[ASN][1000 genomes]
rs9319484	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9745455	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921115	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921330	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923034	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923465	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9923574	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9924524	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926453	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9926933	0.93[ASN][1000 genomes]
rs9927330	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928744	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928901	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930002	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9935954	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9935967	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936641	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936648	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936853	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9937903	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9938936	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939080	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939587	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9940189	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940884	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9941142	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9972714	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs9932982	RP11-252K23.2	cis	Esophagus Mucosa	GTEx
rs9932982	RP11-252K23.2	cis	lung	GTEx
rs9932982	RP11-252K23.2	cis	Thyroid	GTEx
rs9932982	RP11-252K23.2	cis	Artery Tibial	GTEx
rs9932982	RP11-252K23.2	cis	Nerve Tibial	GTEx

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:75339400-75411800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:75340400-75374800	Weak transcription	Aorta	Aorta
4	chr16:75340800-75373400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr16:75341800-75364600	Weak transcription	Hela-S3	cervix
6	chr16:75342200-75381200	Weak transcription	Esophagus	oesophagus
7	chr16:75344000-75376400	Weak transcription	Gastric	stomach
8	chr16:75344600-75361400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr16:75347600-75366000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr16:75348400-75374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr16:75351600-75363200	Weak transcription	HepG2	liver
12	chr16:75352000-75361200	Weak transcription	Fetal Stomach	stomach
13	chr16:75352000-75368000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr16:75352200-75362600	Weak transcription	Fetal Intestine Large	intestine
15	chr16:75352200-75376400	Weak transcription	Pancreas	Pancrea
16	chr16:75352200-75396000	Weak transcription	Lung	lung
17	chr16:75354600-75362800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr16:75354600-75367800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:75354600-75373400	Weak transcription	Left Ventricle	heart
20	chr16:75354600-75375000	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr16:75354800-75360200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr16:75354800-75363600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr16:75354800-75370800	Weak transcription	Brain Anterior Caudate	brain
24	chr16:75354800-75372400	Weak transcription	Fetal Lung	lung
25	chr16:75354800-75374800	Weak transcription	Liver	Liver
26	chr16:75354800-75413600	Weak transcription	Fetal Thymus	thymus
27	chr16:75355000-75360200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr16:75355000-75364400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr16:75355000-75364600	Weak transcription	Brain Hippocampus Middle	brain
30	chr16:75355000-75368000	Weak transcription	Fetal Muscle Leg	muscle
31	chr16:75355000-75374600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr16:75355200-75360000	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr16:75355200-75360000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:75355400-75360000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr16:75355400-75375000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr16:75355400-75379800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr16:75355600-75360000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr16:75355600-75367600	Weak transcription	HSMMtube	muscle
39	chr16:75357400-75367400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:75357400-75374400	Weak transcription	Osteobl	bone
41	chr16:75357400-75374800	Weak transcription	NHDF-Ad	bronchial
42	chr16:75357600-75360000	Enhancers	Primary T cells from cord blood	blood
43	chr16:75357600-75361000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr16:75357800-75360000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr16:75358000-75374800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr16:75358200-75361000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:75358200-75367400	Weak transcription	HUVEC	blood vessel
48	chr16:75358200-75368200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr16:75358200-75374400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:75358200-75374800	Weak transcription	NHLF	lung

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