Variant report

Variant	rs7191481
Chromosome Location	chr16:31745960-31745961
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10871458	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11150638	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1156903	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12324951	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12716999	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12717000	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1528319	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1919042	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2078924	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2106579	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2157970	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2188619	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2359219	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2359222	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2359226	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2359455	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28427454	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4620975	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4889553	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4889555	0.85[EUR][1000 genomes]
rs4889688	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4889689	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889693	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6565275	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6565278	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6565280	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6565282	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6565285	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6565286	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6565287	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7188627	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7190730	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7206536	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs727349	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8049323	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8053712	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8060086	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8062902	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs916753	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs929208	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9921546	0.81[AMR][1000 genomes]
rs9921898	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9928006	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9929892	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9930700	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9936002	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9938037	0.88[AMR][1000 genomes];0.94[EUR][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
rs7191481	CLUHP3	cis	Whole Blood	GTEx

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31725800-31753400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:31726000-31747400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:31726400-31750000	Weak transcription	HUVEC	blood vessel
4	chr16:31726400-31750800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr16:31726600-31748600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:31727200-31758800	Weak transcription	Fetal Thymus	thymus
7	chr16:31727200-31760000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:31727600-31758400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr16:31727800-31748400	Weak transcription	HSMMtube	muscle
10	chr16:31728000-31752200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr16:31730000-31758200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:31730200-31751000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr16:31731600-31748200	Weak transcription	Right Ventricle	heart
14	chr16:31735000-31748200	Weak transcription	Osteobl	bone
15	chr16:31735200-31751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr16:31738800-31758200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr16:31739000-31754600	ZNF genes & repeats	Liver	Liver
18	chr16:31740800-31751000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr16:31742800-31746000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr16:31742800-31746600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr16:31742800-31746600	Weak transcription	Brain Germinal Matrix	brain
22	chr16:31742800-31746800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr16:31742800-31747000	Weak transcription	Placenta	Placenta
24	chr16:31742800-31747200	Weak transcription	Brain Anterior Caudate	brain
25	chr16:31742800-31749400	Weak transcription	Psoas Muscle	Psoas
26	chr16:31743000-31751200	Weak transcription	Brain Angular Gyrus	brain
27	chr16:31743400-31748400	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:31743600-31746400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:31743600-31746400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr16:31743600-31746600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:31743600-31747200	Weak transcription	NHEK	skin
32	chr16:31743600-31748400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr16:31743600-31748400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:31743600-31748400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr16:31743600-31751000	Weak transcription	Esophagus	oesophagus
36	chr16:31743600-31751000	Weak transcription	Pancreas	Pancrea
37	chr16:31743600-31753600	Weak transcription	Gastric	stomach
38	chr16:31743800-31746200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:31743800-31748400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr16:31744200-31750000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr16:31744200-31750000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
42	chr16:31744400-31746400	Weak transcription	Fetal Intestine Large	intestine
43	chr16:31744600-31754400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:31744800-31746200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:31744800-31746800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr16:31744800-31747000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr16:31744800-31750200	ZNF genes & repeats	Primary B cells from cord blood	blood
48	chr16:31745000-31746000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
49	chr16:31745000-31746000	ZNF genes & repeats	GM12878-XiMat	blood
50	chr16:31745000-31746400	Strong transcription	Brain Hippocampus Middle	brain

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