Variant report

Variant	rs4792731
Chromosome Location	chr17:16201941-16201942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16194799..16198455-chr17:16198846..16202251,3	K562	blood:
2	chr17:16200899..16203250-chr17:16255002..16257241,2	K562	blood:
3	chr17:16201566..16203146-chr17:16204706..16207584,2	K562	blood:

Variant related genes	Relation type
ENSG00000166582	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1029809	0.87[EUR][1000 genomes]
rs10852834	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11078337	0.95[EUR][1000 genomes]
rs11650283	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11650427	0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs11650956	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11651578	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11651955	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11653585	0.91[CHB][hapmap]
rs11653650	0.87[EUR][1000 genomes]
rs11654658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11655325	0.86[EUR][1000 genomes]
rs11656811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11868284	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12150564	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12936233	0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs12936529	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12938394	0.84[EUR][1000 genomes]
rs12938397	0.82[CEU][hapmap];0.96[TSI][hapmap];0.94[EUR][1000 genomes]
rs12938878	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12939078	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12945855	0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs12945877	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12946717	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12948244	0.85[CEU][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs12948905	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1476810	0.85[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs15739	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16959630	1.00[CHD][hapmap]
rs1963811	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2014604	0.89[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs2109262	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324306	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2324307	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28516015	0.83[EUR][1000 genomes]
rs3095171	0.82[EUR][1000 genomes]
rs3112511	0.89[CEU][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs3112513	0.89[CEU][hapmap];0.91[GIH][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes]
rs3112521	0.81[GIH][hapmap]
rs3112524	0.81[GIH][hapmap]
rs3112526	0.81[GIH][hapmap]
rs3112527	0.81[GIH][hapmap]
rs35565381	0.83[EUR][1000 genomes]
rs35762856	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3785620	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3785621	0.89[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs3785622	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785623	0.89[CEU][hapmap];0.83[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs3785625	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3785626	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4791665	0.89[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.81[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs4792728	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4792729	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4792730	0.87[EUR][1000 genomes]
rs4792732	0.86[ASN][1000 genomes]
rs56269147	0.83[EUR][1000 genomes]
rs56326304	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62072528	0.87[EUR][1000 genomes]
rs6502498	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6502499	0.89[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs7210990	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7215071	0.86[EUR][1000 genomes]
rs7219687	0.89[CEU][hapmap];0.83[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs7225920	0.87[EUR][1000 genomes]
rs8073259	0.80[GIH][hapmap]
rs8074727	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs917609	0.81[GIH][hapmap]
rs9747114	0.86[EUR][1000 genomes]
rs9890539	0.85[CEU][hapmap];0.91[CHB][hapmap];0.80[GIH][hapmap]
rs9909022	0.87[EUR][1000 genomes]
rs9910148	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9914734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9916220	0.87[EUR][1000 genomes]
rs9944524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv907715	chr17:16019978-16206540	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
6	nsv907717	chr17:16076898-16239832	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases
7	esv3326983	chr17:16138963-16210147	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs4792731	ADORA2B	cis	Muscle Skeletal	GTEx
rs4792731	CENPV	cis	parietal	SCAN
rs4792731	LOC125150	cis	uninvolved skin	skin_eQTL
rs4792731	TTC19	cis	lymphoblastoid	seeQTL
rs4792731	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs4792731	CENPV	cis	Artery Tibial	GTEx
rs4792731	PRR6	cis	multi-tissue	Pritchard
rs4792731	TRPV2	cis	parietal	SCAN
rs4792731	ADORA2B	cis	Artery Tibial	GTEx
rs4792731	ADORA2B	cis	Thyroid	GTEx
rs4792731	ZSWIM7	cis	Muscle Skeletal	GTEx
rs4792731	PRPSAP2	cis	parietal	SCAN
rs4792731	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs4792731	CENPV	cis	lymphoblastoid	seeQTL
rs4792731	TRPV2	cis	cerebellum	SCAN
rs4792731	LOC125150	cis	lesional skin	skin_eQTL
rs4792731	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs4792731	ELAC2	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16166200-16205400	Weak transcription	Brain Hippocampus Middle	brain
2	chr17:16181200-16205400	Weak transcription	Dnd41	blood
3	chr17:16187200-16205200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr17:16189400-16216600	Weak transcription	Fetal Brain Female	brain
5	chr17:16190400-16203000	Weak transcription	Left Ventricle	heart
6	chr17:16190600-16203000	Weak transcription	Ovary	ovary
7	chr17:16190600-16205000	Weak transcription	Lung	lung
8	chr17:16190600-16205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr17:16190600-16229600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr17:16190800-16203000	Weak transcription	Fetal Muscle Leg	muscle
11	chr17:16190800-16204200	Weak transcription	Brain Anterior Caudate	brain
12	chr17:16190800-16205000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr17:16190800-16205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:16190800-16205200	Weak transcription	NHEK	skin
15	chr17:16190800-16216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr17:16190800-16220800	Weak transcription	Aorta	Aorta
17	chr17:16191000-16203000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr17:16191400-16203200	Weak transcription	Fetal Stomach	stomach
19	chr17:16191400-16205200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr17:16191400-16218400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr17:16191400-16219400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:16191400-16226000	Weak transcription	HSMMtube	muscle
23	chr17:16191600-16203200	Weak transcription	Adipose Nuclei	Adipose
24	chr17:16191600-16204000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:16191600-16205200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr17:16191600-16216800	Weak transcription	Fetal Kidney	kidney
27	chr17:16191800-16203000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:16191800-16204000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:16191800-16205000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr17:16191800-16205000	Weak transcription	Placenta	Placenta
31	chr17:16191800-16205400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:16191800-16217200	Weak transcription	HSMM	muscle
33	chr17:16192600-16203200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:16192600-16205200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr17:16192800-16203200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr17:16192800-16229000	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr17:16193000-16205200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr17:16193000-16205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:16193000-16205400	Weak transcription	NH-A	brain
40	chr17:16193200-16203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:16193200-16205400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:16193200-16205400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:16194000-16216400	Weak transcription	GM12878-XiMat	blood
44	chr17:16194200-16203000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:16194600-16203000	Weak transcription	Primary B cells from cord blood	blood
46	chr17:16195200-16203000	Weak transcription	Primary B cells from peripheral blood	blood
47	chr17:16195800-16204400	Enhancers	Fetal Intestine Large	intestine
48	chr17:16196200-16203000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr17:16196400-16204000	Weak transcription	Osteobl	bone
50	chr17:16197800-16203200	Enhancers	Fetal Intestine Small	intestine

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