Variant report

Variant	rs9889745
Chromosome Location	chr17:15888589-15888590
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15872821..15874890-chr17:15887879..15890256,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10491104	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1065822	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1079533	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078321	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11078328	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11078330	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1125156	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11651290	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11651508	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657912	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11868809	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871961	0.81[EUR][1000 genomes]
rs11872032	0.81[EUR][1000 genomes]
rs12451075	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12942295	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12945546	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12947205	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12948361	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2015353	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2041459	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041460	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2051736	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2157992	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301651	0.80[ASN][1000 genomes]
rs2324084	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2779211	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34236618	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3760298	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3785631	0.89[EUR][1000 genomes]
rs3785633	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3815038	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3815039	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3826360	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4239134	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4791660	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4791661	0.80[EUR][1000 genomes]
rs4791662	0.80[EUR][1000 genomes]
rs4792711	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4792719	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55676330	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6502480	0.81[EUR][1000 genomes]
rs7207889	0.80[EUR][1000 genomes]
rs7214891	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7217614	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72833498	0.85[EUR][1000 genomes]
rs758853	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8076669	0.80[EUR][1000 genomes]
rs8076864	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8080706	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9652828	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9889822	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9890012	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9891379	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9898313	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9899002	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9905429	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9908031	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9909615	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
8	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	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
10	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers 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 miRNA target site	28 gene(s)	inside rSNPs	diseases
12	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs9889745	CENPV	cis	Artery Tibial	GTEx
rs9889745	ADORA2B	cis	Esophagus Muscularis	GTEx
rs9889745	ADORA2B	cis	Muscle Skeletal	GTEx
rs9889745	NCOR1	Cis_1M	lymphoblastoid	RTeQTL
rs9889745	TTC19	Cis_1M	lymphoblastoid	RTeQTL
rs9889745	ZSWIM7	cis	Muscle Skeletal	GTEx
rs9889745	ADORA2B	cis	Adipose Subcutaneous	GTEx
rs9889745	ZSWIM7	Cis_1M	lymphoblastoid	RTeQTL
rs9889745	ADORA2B	cis	Artery Tibial	GTEx
rs9889745	ADORA2B	cis	Nerve Tibial	GTEx
rs9889745	ADORA2B	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15870400-15902400	Weak transcription	Small Intestine	intestine
2	chr17:15870800-15902400	Weak transcription	Esophagus	oesophagus
3	chr17:15873200-15902200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15874800-15902400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:15877600-15888800	Weak transcription	NHDF-Ad	bronchial
6	chr17:15877800-15891200	Strong transcription	Fetal Muscle Leg	muscle
7	chr17:15878200-15901800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr17:15879600-15891600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:15880200-15901600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr17:15881200-15892800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:15881400-15901800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr17:15883200-15891200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr17:15883200-15894000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:15883400-15894400	Strong transcription	Fetal Stomach	stomach
15	chr17:15883400-15896600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:15883600-15889600	Strong transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:15883600-15890800	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr17:15883600-15890800	Strong transcription	Fetal Thymus	thymus
19	chr17:15883600-15891000	Strong transcription	Left Ventricle	heart
20	chr17:15883600-15891600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr17:15883600-15892000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:15883600-15892000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr17:15883600-15893000	Strong transcription	Adipose Nuclei	Adipose
24	chr17:15883600-15893200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr17:15883600-15893200	Strong transcription	Dnd41	blood
26	chr17:15883600-15893600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:15883600-15893600	Strong transcription	Fetal Lung	lung
28	chr17:15883600-15895200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr17:15883600-15895400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:15883600-15896600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:15883600-15898000	Strong transcription	Fetal Muscle Trunk	muscle
32	chr17:15883600-15898400	Strong transcription	Liver	Liver
33	chr17:15883800-15892000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:15884000-15901600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr17:15884000-15902200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr17:15884200-15893000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr17:15884400-15902000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr17:15884600-15890000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr17:15884600-15890200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr17:15884600-15890800	Strong transcription	Primary T cells from cord blood	blood
41	chr17:15884600-15898600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:15884600-15901600	Weak transcription	Fetal Kidney	kidney
43	chr17:15884600-15901600	Weak transcription	NHLF	lung
44	chr17:15884600-15902000	Weak transcription	Fetal Brain Male	brain
45	chr17:15884600-15902400	Weak transcription	Gastric	stomach
46	chr17:15884800-15889800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr17:15884800-15890000	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr17:15884800-15891600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:15884800-15902000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr17:15885000-15889800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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