Variant report

Variant	rs1963811
Chromosome Location	chr17:16184051-16184052
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:16174439..16177068-chr17:16182949..16184575,2	MCF-7	breast:
2	chr17:16182895..16184855-chr17:16188164..16190735,2	K562	blood:
3	chr17:16171393..16174312-chr17:16182076..16184658,2	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1029809	0.88[EUR][1000 genomes]
rs10852834	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11078337	0.94[EUR][1000 genomes]
rs11650283	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11650427	0.89[EUR][1000 genomes]
rs11650956	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651578	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11651955	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11653650	0.88[EUR][1000 genomes]
rs11654658	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655325	0.84[EUR][1000 genomes]
rs11656811	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11868284	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12150564	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12936233	0.86[EUR][1000 genomes]
rs12936529	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12938394	0.82[EUR][1000 genomes]
rs12938397	0.95[EUR][1000 genomes]
rs12938878	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939078	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12945855	0.85[EUR][1000 genomes]
rs12945877	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12946717	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12948244	0.84[EUR][1000 genomes]
rs12948905	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1476810	0.91[ASN][1000 genomes]
rs15739	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2014604	0.84[EUR][1000 genomes]
rs2109262	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324306	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2324307	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28516015	0.81[EUR][1000 genomes]
rs3095171	0.80[EUR][1000 genomes]
rs3112511	0.81[EUR][1000 genomes]
rs3112513	0.81[EUR][1000 genomes]
rs35565381	0.81[EUR][1000 genomes]
rs35762856	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3785620	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3785621	0.82[EUR][1000 genomes]
rs3785622	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785623	0.85[EUR][1000 genomes]
rs3785625	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785626	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4791665	0.85[EUR][1000 genomes]
rs4792728	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4792729	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4792730	0.86[EUR][1000 genomes]
rs4792731	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4792732	0.88[ASN][1000 genomes]
rs56269147	0.81[EUR][1000 genomes]
rs56326304	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62072528	0.88[EUR][1000 genomes]
rs6502498	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7210990	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7215071	0.87[EUR][1000 genomes]
rs7219687	0.84[EUR][1000 genomes]
rs7225920	0.85[EUR][1000 genomes]
rs8074727	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9747114	0.84[EUR][1000 genomes]
rs9909022	0.88[EUR][1000 genomes]
rs9910148	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9914734	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9916220	0.88[EUR][1000 genomes]
rs9944524	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv528263	chr17:16097430-16196996	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
8	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
9	nsv907719	chr17:16161036-16185122	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1963811	CENPV	cis	Artery Tibial	GTEx
rs1963811	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs1963811	ADORA2B	cis	Thyroid	GTEx
rs1963811	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs1963811	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs1963811	ADORA2B	cis	Muscle Skeletal	GTEx
rs1963811	ADORA2B	cis	Artery Tibial	GTEx
rs1963811	ZSWIM7	cis	Muscle Skeletal	GTEx
rs1963811	ADORA2B	cis	Esophagus Muscularis	GTEx

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16157400-16185200	Weak transcription	Gastric	stomach
2	chr17:16159400-16189200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr17:16159600-16188800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr17:16159600-16189000	Weak transcription	Brain Anterior Caudate	brain
5	chr17:16160400-16188400	Weak transcription	Liver	Liver
6	chr17:16163400-16189200	Weak transcription	Left Ventricle	heart
7	chr17:16163600-16189200	Weak transcription	Pancreas	Pancrea
8	chr17:16164000-16185000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:16164000-16189000	Weak transcription	Fetal Brain Female	brain
10	chr17:16164000-16189000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:16166200-16205400	Weak transcription	Brain Hippocampus Middle	brain
12	chr17:16168600-16188800	Weak transcription	Fetal Intestine Large	intestine
13	chr17:16171400-16188200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:16171400-16189000	Weak transcription	Spleen	Spleen
15	chr17:16171600-16188200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr17:16172000-16185200	Weak transcription	Lung	lung
17	chr17:16172600-16188200	Weak transcription	GM12878-XiMat	blood
18	chr17:16173000-16187800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr17:16173000-16188200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:16173200-16185400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:16173200-16186800	Weak transcription	Fetal Lung	lung
22	chr17:16173200-16187800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr17:16173200-16188000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr17:16173400-16187800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr17:16173400-16187800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr17:16173400-16188200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr17:16173600-16185200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr17:16175000-16189000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:16176200-16188800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr17:16177200-16184200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:16177600-16184200	Weak transcription	HSMM	muscle
32	chr17:16177600-16184400	Weak transcription	A549	lung
33	chr17:16177600-16184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:16177600-16184600	Weak transcription	HMEC	breast
35	chr17:16177600-16185000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:16177600-16185000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr17:16177600-16185200	Weak transcription	HUVEC	blood vessel
38	chr17:16177800-16184400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:16179000-16189000	Weak transcription	Aorta	Aorta
40	chr17:16179800-16188800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:16180000-16188800	Weak transcription	Placenta	Placenta
42	chr17:16180800-16188200	Weak transcription	Adipose Nuclei	Adipose
43	chr17:16181200-16184800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr17:16181200-16205400	Weak transcription	Dnd41	blood
45	chr17:16181600-16188000	Weak transcription	Fetal Thymus	thymus
46	chr17:16181800-16185200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:16181800-16189400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:16182000-16189200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr17:16182200-16189000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr17:16182200-16189000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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