Variant report

Variant	rs9921898
Chromosome Location	chr16:31759862-31759863
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10871458	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11150638	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1156903	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12324951	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12447780	0.84[ASN][1000 genomes]
rs12716999	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12717000	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1406177	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1528319	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534507	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1852666	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1881316	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1919040	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1919042	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2078924	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2106579	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2106581	0.98[ASN][1000 genomes]
rs2157970	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2178179	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2188619	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2222754	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2359219	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2359222	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2359226	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2359455	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28427454	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4620975	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4889553	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889555	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4889688	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4889689	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4889693	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62054710	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6565267	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6565269	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6565275	0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6565278	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6565280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6565282	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6565285	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6565286	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6565287	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67922432	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7188627	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7190730	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7191481	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7206536	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs727349	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8049323	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8053712	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8060086	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8062424	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8062902	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs916753	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs929208	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9921546	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9928006	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9929892	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9930700	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9936002	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9938037	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
2	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
7	nsv833195	chr16:31576112-31763222	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1067321	chr16:31652036-31959992	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
9	nsv918074	chr16:31669781-31935033	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv1063037	chr16:31669981-31934894	Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv542903	chr16:31669981-31934894	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv905761	chr16:31730525-31812442	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3446880	chr16:31734687-31891223	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9921898	CLUHP3	cis	Whole Blood	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31727200-31760000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:31745800-31760000	Weak transcription	NHDF-Ad	bronchial
3	chr16:31747000-31760000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr16:31752000-31760000	Weak transcription	Fetal Stomach	stomach
5	chr16:31752600-31760000	Weak transcription	Placenta	Placenta
6	chr16:31753800-31760000	Weak transcription	Pancreas	Pancrea
7	chr16:31754200-31760000	Weak transcription	Esophagus	oesophagus
8	chr16:31755400-31760000	Weak transcription	Fetal Intestine Large	intestine
9	chr16:31755400-31771000	ZNF genes & repeats	Liver	Liver
10	chr16:31756200-31760000	Weak transcription	Aorta	Aorta
11	chr16:31756400-31771000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:31756800-31760000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:31757000-31761400	Weak transcription	Fetal Heart	heart
14	chr16:31758200-31760000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:31758200-31760000	Weak transcription	Brain Substantia Nigra	brain
16	chr16:31758200-31760000	Weak transcription	Colonic Mucosa	Colon
17	chr16:31758200-31760200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:31758200-31760200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:31758200-31760200	Weak transcription	Brain Angular Gyrus	brain
20	chr16:31758200-31760200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr16:31759600-31761000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr16:31759600-31761200	ZNF genes & repeats	Ovary	ovary
23	chr16:31759600-31761200	ZNF genes & repeats	Thymus	Thymus
24	chr16:31759600-31761400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:31759600-31761400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
26	chr16:31759600-31761600	ZNF genes & repeats	Brain Germinal Matrix	brain
27	chr16:31759600-31762000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
28	chr16:31759600-31762200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr16:31759600-31762400	ZNF genes & repeats	Left Ventricle	heart
30	chr16:31759600-31767400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
31	chr16:31759600-31769200	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr16:31759600-31769400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
33	chr16:31759600-31769600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr16:31759600-31769600	ZNF genes & repeats	HepG2	liver
35	chr16:31759600-31769800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
36	chr16:31759600-31770000	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr16:31759600-31770000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
38	chr16:31759600-31770200	ZNF genes & repeats	Duodenum Mucosa	Duodenum
39	chr16:31759600-31770800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr16:31759600-31771000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr16:31759600-31771000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr16:31759600-31771000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr16:31759600-31771000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr16:31759600-31771000	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr16:31759600-31771000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
46	chr16:31759800-31761000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:31759800-31761000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr16:31759800-31761000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:31759800-31761000	ZNF genes & repeats	Fetal Kidney	kidney
50	chr16:31759800-31761000	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle

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